The Inheritance of Palmar and Hallucal Dermatoglyphic Patterns in Fifty-four American Caucasian Families A N D CHARLES C. FAUST ' Department of Medical Genetics, Children's Medical Center, Dayton, Ohio, and D e ~ partment of Pediatrics, Louisiana State 1lniriersit.v School of Medicine in Shreueport; ' Department of Pediatrics. Wright State Uniuersity, Drpartrnent of Medical Genetics, Children's Medical Center, Dayton, Ohio, and Department of Pediatrics. Louisiana State University School of Medicine i n Shreueport; and Department of Ridogy, Louisiana State 1Jniuersit.y a t Eunice
LESLIE Y. MORGAN,' RICHARD C. JUBERG I
K E Y WORDS Dermatoglyphics . Inheritance
.
Palms
.
Soles
.
Louisianians
ABSTRACT
We searched for single gene effects determining certain palmar and plantar patterns - two interdigital and the hypothenar areas. palmar main line sequence. and hallucal pattern. Our subjects were 108 parents from central Louisiana and 123 of their offspring; there were 127 females and 104 males. For the third and fourth interdigital areas, we classified for presence of a pattern ( + ) or no pattern ( - ) . For the hypothenar area, we classified arch, anteform, and open field as no pattern ( - ) and other configurations a s a pattern ( + ). Main line sequence we determined by the distal to proximal ordering of the five main lines. We analyzed the hallucal area by combining three loop patterns. Segregational analyses followed. For the third interdigital area, the frequency of + was 51%.For the fourth was 51%.In the hypothenar area, the freinterdigital area, the frequency of was 45%. We set out the six mating types by the bilateral occurquency of rence of pattern in each area and found similar results. The proportion of + offspring was highest with both parents and diminished as the parents became increasingly more - -. Evidence for genetic determination of six different main line sequences consisted of the proportion of related/(related + unrelated) which averaged 0.48. Parent-offspring occurrence of an accessory triradius and absence of the c triradius suggested monogenic control. Segregation of the hallucal patterns was less suggestive. We conclude that the results offer evidence for substantial genetic determination of palmar dermatoglyphics, and for some patterns possible monogenic determination
+
+
++
Aside from anecdotal reports only two prior investigations have furnished evidence regarding monogenic determination of dermatoglyphic patterns (Slatis et al., '76; Juberg et al., '77). Slatis and coauthors introduced the concept of single gene control of digital patterns beyond the occurrence of private genes (David, '71;Ludy, '44). The concept of commonly occurring individual genes for single digit or whole-hand sequence patterns had not been investigated before Slatis and coauthors looked a t the Habbanites and we studied LouiAM. J. PHYS. ANTHROP. (1978)49: 441-448.
+
sianians (Slatis et al., '76; Juberg et al., '771, although it had been brought out (Schaumann and Alter, '76) that dermatoglyphics may be characteristic in heritable syndromes, particularly those due to chromosomal abnormality. To date, the palm and the sole have not been similarly considered. Our purpose in this study was to search for single gene effects in determining palmar and hallucal dermatoglyphic patterns. We fol' Correspondence to Richard C. Juberg, M.D., Ph.D.. Children's Medical Center. 1735 Chapel Street, Dayton, Ohio 45404.
44 1
442
LESLIE Y MORGAN, RICHARD C. JUBERG AND CHARLES C. FAUST
lowed the same procedure we had used previously in seeking evidence of monogenic determination in digital patterns (Juberg et al., ’77).
TABLE 1
Segregation
third interdigital patterns Offspring
Mating type
MATERIALS
Our subjects were 108 parents from central Louisiana and 123 of their offspring. There were 127 females and 104 males ranging in age from 8 to 66 years. The probands of our investigation were students in the summer 1974 session of Louisiana State University a t Eunice. Two groups of students were enrolled at the time of our study, the undergraduates of this and other schools attending the summer session and a group between their third and fourth years in high school, enrolled in what was called the “Sharp” program, offered for students with relatively high academic standing. In choosing the subjects, we insisted that both biological parents be available. We studied as many of the probands’ siblings as were accessible. Thus, we tested 69 of the 171 siblings of our 54 probands. The total number of subjects in our study was 231.
of
Proportion
N + + X + +
+ + x + + + x - f
-
X
+- x --
x
t
-
--
N
2 7 8 5 18 14
+-
t+
2
19 16 13
0.19 0.08 0 12 0.12
40 33
- -
0.50 0.42 0.25 0.77
0.50 0.26
0.30 0.27
-
0.32
0.56 0.15 0.58 0.61
TABLE 2
Segregution of fourth interdigital patterns Offspnng
Mating type
+ t x + + + + x + + + X - -
Proportion
h
N
5 4 15
12 5
X - -
3 13
-- X - -
14
+ - x + i
++ 0.75
0.20 0.51
39 7 33
-~
0.17 0.40
0.08 0.40 0.26 0.86 0.59 0 70
0.23
-
0.14 0.07 0.12
27
t-
0.33 0.18
METHODS AND RESULTS
The palm seemed t o be a complex area in which to look for monogenic inheritance. Therefore, we began by analyzing three specific areas which are physically separated and in which a pattern frequently occurs, namely, third interdigital, fourth interdigital, and hypothenar. In order to consider the palm more as a whole, we utilized the sequence of the main lines. For our analyses of the first three specific areas, we elected t o consider the presence of a pattern or no pattern. We defined as positive ( + ) any true pattern and defined as negative ( - ) the absence of a true pattern, including the so-called vestige or anteform (Morgan and Juberg, ’77).
+
+
spring who were +, -, and - - for each offspring mating type. The proportion of and was highest when both parents were it diminished in other mating types, specifically going from 0.50 to 0.12, or to 0.08 in t.he - x - mating, from which there were fewer offspring. Conversely, the proportion of - - offspring was lowest when both parents were + +, and it increased as the mating type of the parents included more minuses.
+
++
+ +,
+
Fourth interdigital area As we did for the preceding region, we and the absence of scored a true pattern as a true pattern as -. The frequency of a true pattern was 0.51, the same as for the third interdigital area. The frequency of bilateral OCThird interdigital area currence was 0.56 and of unilateral occurThe frequency of a true pattern was 0.51; rence 0.44, which differed from the third in. the frequency of bilateral occurrence was terdigital by the greater frequency of bilateral 0.32, of unilateral occurrence 0.68. We con- occurrence. As in our analysis for the third insidered six mating types with regard to the terdigital area, we defined six mating types bilateral occurrence of patterns as follows: according to the bilateral occurrence of a patx ++; x +--; x --,+-x tern. Table 2 shows the segregation of the +--. + - x , a n d - - X --.Thus, we offspring. The proportion of + offspring was utilized all of the data because every mating greatest when both parents were + + and difell into one of these mating types. Table 1 minished as the parental mating types inshows t h a t we looked a t the proportion of off- cluded more minuses, as was generally ob-
++
++
++
+
+
INHERITANCE OF DERMATOGLYPHIC PATTERNS 1.4BLE 3
Segregation of hypoiheriar patterns
~
z
N + + x + t T
1
x t -
t i X
-
+ - x
+
+ - A
-
9
3 5 17 3
12 33 6 29 34
12
- - x - -
14
0.48, of unilateral occurrence 0.52. Considering the aforementioned six mating types, we looked a t segregation of t h e offspring. The results were similar to those for t h e prior two a r e a s (table 3 ) . The proportion of + offspring was greatest when both parents were + and progressively decreased as t h e parents became more - -. The proportion of _ _ offspring was least when both parents were + + and increased as the parents became more - -.
+
Proportion
Mating type
443
+t
+-
067 042 015 (I 17
011 008 039 033
007
021
OR0 072
009
021
071
~-
022 050 046
+
Main lines TARLE 4
Frequency of muin line sequences Sequence
Frequenc)
Number
0.307 0.203
142 94 61 21 17
CBDAT CDBhT DCBAT BDAT DBAT - DBAT CDBTA RCDAT CE, ,SAT BDAT Ail others Total
0.132 0 045 0.037 0.035 0 026
~
0.024 0.024 0 019 0 147
16 12 11 11 9
66 462
served in t h e third interdigital area. The proportion of - - offspring was least when both parents were +- + and tended to augment as t h e parents became more -~-. The small numbers in our study preclude comment on - offspring. t h e proportion of
+
Hypothenar area
+
Our definition of incorporated the occurrence of a whorl, radial loop, ulnar loop, carpal loop, tented arch whet,her ulnar, radial, or carpal (Cummins and Midlo, ’61, where the distinction is made between “. . . plain arches, vestiges and t r u e patterns together, . . .”), spattern, and all combinations which incorporated at least one t r u e pattern. We scored a s - : a n ulnar arch, radial arch, carpal arch, anteform, open field, and t h e combinations which did not include at least one t r u e pattern. The parathenar pattern we scored as - . We found two possible y-patterns. We scored one as a t r u e pattern but decided t h a t t h e other was not a pattern. With these definitions, t h e frequency of a t r u e pattern was 0.45, and thus the frequency of absence was 0.55. The frequency of bilateral occurrence was
The concept of a main line sequence we a t tribute to Kloepfer.5 By his definition, the sequence is determined by beginning distally a t t h e base of the third digit and progressing proximally through the center of t h e palm listing t h e main lines in order of encounter. In t h e most common sequence, called CBDAT, t h e C main line is first encountered and then t h e BDA main lines, in order, until finally t h e T line is crossed. Table 4 gives the frequency of t h e main line sequences in t h e 462 palms of our Louisiana population. We had to devise supplementary definitions for the exceptions to the usual occurrence and distribution of five main lines. An “E” represented a n accessory triradius, and a subscript defined its position on t h e palm, for example, t h e “d” triradius a t 6 and its accessory triradius at 6.1. A “ - ” stood for a n ahortive main line parallel t o t h e sequencing axis. A letter with a subscripted “a,” such as “D,,” indicated an abortive main line perpendicular to t h e sequencing axis. Parallel constructions we represented by two parallel lines between the letters of t h e two main lines, thus, CIID. The following six palmar line sequences displayed the most familial aggregation. Sequence CDBTA
The frequency was 2.60% (12 palms/462 palms), occurring unilaterally on the left in all 12 persons. Of t h e 12 persons, 8 were related: 218 in two generations (parent-offspring) and 6/8 in one generation (siblings) (table 5). Sequence DBAT The frequency was 3.68% (17 palms/462 palms), occurring unilaterally on t h e left in 6 persons, unilaterally on the right in 5, and bilaterally in 3 persons. Of t h e 14 persons, 4 - _ _ ~
‘ 111 a cunversation
with H. W. Kloepfer. Ph.D.. in .January 1972.
444
LESLIE Y. MORGAN, RICHARD C. JUBERG AND CHARLES C. FAUST TABLE 5
Palmar main line sequence CDBTA Sequence Suhject
Lest
Right
!
C,DBTA
- BDAT
Father { Daughter
CDBTA
CBDTA
1 of 6 iihs
{ Son
CDBTA
CDBAT
Father
[ Son
CDBTA
CDBAT
Mother DCBTA, CDBAT
{ Son
CDBTA
CIIBAT
Eather CIIDBTA, CBDAT
{ Daughter
CDBTA
CDBAT
Mother CDBAT, CDBAT
{ Daughter [ 1 Daughter
CDBTA
CBDAT
Father CBDAT, CBDAT
CDBTA
-
BDAT
Mother CBDAT, CBDAT
Note
Related
i
I
- DBAT,
CBDAT
I In this and all niicc~edingtahlea, the note about sibs refers to t h e numher studied and not the total in the slhsh~p. Tikcwise. the nuniher of offspring indicated after a parent refers to the number studied and not t h e total horn to t h a t parent.
TAR1.E 6
Palmar main line sequenrr DRAT Sequence Suhicct
Related 1 Son
1 1 Daughter I Son
Left
-BDAT
Right
lote
DBAT
2 of 4 sibs
DRAT
CBDAT
Father: CBDAT, CDBAT Mother: CBDAT, CII BDAT
DCBAT
DBAT
2 of 3 sibs
DBAT
DBAT
Father: DCBAT. CDBAT Mother, CDBAT, DCBAT
I
1 Daughter
TABLE 7
were related: 414 in one generation (siblings? (table 6).
Palmar main line sequence -DRAT
Sequence -DBAT
The frequency was 3.46% (16/462), occurring unilaterally on the left in 12 persons, unilaterally on the right in 2, and bilaterally in 1. Of the 15 persons, 6 were related: all 6 occurred in two generations (parent-offspring) (table 7). Sequence CBE, ,AT
The frequency was 1.95% (9/462), occurring unilaterally on the left in 4 persons, unilaterally on the right in 3, and bilaterally in 1. Of the 8 persons, 5 were related: all 5 occurred in two generations (parent-offspring) (table 8 ) . Sequence C E , ,BAT
The frequency was 2.38% (11/462?, occurring unilaterally on the left in 10 persons, uni-
Sequrncr Subieci
Related { Father
Left
Right
-DBAT
CBDAT
i Son
-DBAT
CBDAT
{ Mother
-DBAT
CBll DAT
{ Son
-DBAI
CBDAT
1 Father
CDBAT
-DBAT
( Daughter
-DBAI'
CDBAT
i
1
Note
of 3 sibs
of 5 sibs
!
1 of 2 sibs
laterally on the right in 1, and never bilaterally. Of the 11 persons, 5 were related: all 5 occurred in two generations (parent-offspring) (table 9).
INHERITANCE OF UERMATOGLYPHIC PATTERNS
445
TAbLE 8
TABLh 9
Palmar main line sequence CBE, ,AT
Palmar m a m line SeQuence CE, ,RAT
Sequencr
Sequence
Left
Subject
Rdated I Father
Right
Related ( Father
CBE, ,AT CBE, ,AT
CBEf AT BCDAT
1 of 4 slbs
Rieht
CE, ,RAT DCBAT
I I Son
I { Daughter
Left
Subject
Not?
Note
1 other offspring
CE, ,BAT DBAT
I
{ Mother
CE, ,BAT CBE, ,AT 3 other offspring
1 Daughter
CE, lBAT CBDAT
i i Son
CBE, ,AT CBDE,, ,T
ii
CE, ,BAT CAE, ,AT
{
1 Son
CE6 BAT CBE,,AT
Mother Son
CE, ,BAT CBEs , A T 1 of 5 sihs
TABLE 10
Palmar main line sequence E , ,BAT Srqurnce - ~ _ _ _ _ Left Right
Subject
Related Daughter Daughter
E6,BAT E,,BAT
Note
CRDAT CBDAT
2 of 5 sibs Father BDA'I', CBDAI' Mother CE, ,BAT, CBEr ,AT
TABLE 11
Segregation
hallucal patterns
i$
Offspring Mating typ?
LL x LL 1,L x 1,w LL x ww
LW x LW LW x ww
ww
x
ww
Proportion S
N
LL
LW
WW
Other
I1 9 3 17 1 5
27 22 5 39 1 12
0.63 0.50 0.20 0.59 1.00 0.42
0.15 0.23 0.60 0.10
0.15 0.18 0.20 0.23
0.07 0.09
Sequence E 6,BAT The frequency was 1.08%(514621, occurring unilaterally on the left in 3 persons, never unilaterally on t h e right, and bilaterally in 1. Of the 4 persons, 2 were related: they occurred in one generation (siblings) (table 10).
Hallucal region We found t h e frequency of hallucal patterns to be: 0.53 distal loop; 0.33 whorl; 0.07 tibial loop; 0.03 fibular arch; 0.03 open field; 0.006 tented arch; 0.006 fibular loop; and 0.002 a n t ef orm . For t h e purpose of investigating segregation, we defined three phenotypes: whorl bilaterally (WW); whorl on one side and loop on t h e other (WL); loop bilaterally (LL).Thus. we combined t h e three loop patterns, namely, dis-
-
-
0.17
0.42
~
0.08 ~
tal, tibial, and fibular into one group. Table 11 shows t h a t there were 46 matings which produced 106 offspring. Although t h e proportion of LL offspring was greatest when both parents were LL, it did not diminish as t h e parents became more WW. However, the proportion of WW children was greatest when both parents were WW and did tend to diminish as t h e parents became increasingly more LL. The relatively small numbers constrain more extensive interpretation. DISCUSSION
The frequency of patterns we found in t h e third and fourth interdigital and in t h e hypothenar areas was similar to t h a t previously reported (Cummins and Midlo. '61). The segregational data for these three areas
446
LESLIE Y. MORGAN, RICHARD C JUBEHG A N D CHARLES C. FAUST
were generally similar. In none was there a mating in which the parents had t h e same phenotype and produced only offspring with t h a t same phenotype. Thus, from t h e - - x _ - matings in each palmar area, about three-tenths of the offspring were either tor + -, and, similarly, from the + x + matings i n t h e f o u r t h interdigital a n d hypothenar areas, approximately one-fourth of t h e progeny were either -t- or - - . We interpret these results to mean t h a t there is not a single locus with a completely recessive allele controlling t h e presence of a patt.ern. Further, in none of t h e matings for any of t h e three areas was there evidence for complete dominance of a n allele determining either presence of absence of pattern. Specifically, grouping either t h e three + or - - parents in any of t h e three areas does not result in just + or -~offspring as would be expected if there were homozygosity for a completely dominant gene. Additional evidence against the presence of a single locus with two alleles and dominance lies in the absence of t h e 1:2: 1 phenotypic ratio among the progeny from t h e - X - matings. If control of a pattern in these areas resides at. a single locus^ then our data suggest t h e presence of incomplete recessivity or possibly incomplete dominance. The pattern of occurrence of the offspring in tables 1,2, and 3 attests to genetic determination, for t h e proportions are clearly not random. In fact. we interpret t h e segregational results to suggest substantial genetic determination. In considering t h e sequence of main lines, our objective was to search for evidence of single genes effecting a portion of a sequence or presence or absence of a feature. I t seemed unlikely t h a t one locus might control the pattern of as many as five lines emanating from five separate areas, although there is evidence for monogenic control of whole hand digital sequences (Juberg e t al., ' 7 7 ; Slatis et al., ' 7 6 ) . In t h e palmar main line sequence of CDBTA, among t h e 8 related of the total of 12 persons with unilateral occurrence, there were one father and his daughter and three pairs of siblings. One parent of each of two of t h e latter pairs had TA at t h e end of another sequence. This seemed noteworthy because a TA sequence is unusual, t h e more common order, by far, being AT. In t h e sequence of DBAT, where t h e c triradius is absent, there were only 4 related persons out of 14 with t h e sequence. These four
+
+
+
+
~
+
+
+
were two pairs of siblings, and none of their parents manifested c triradial absence. Rut one parent of one sihship and both parents of t h e other possessed a DBAT sequence, albeit preceded by the C. None of t h e other siblings in either family was missing the c triradius. Kloepfer ('77) has observed hereditary determination of t h e missing c triradius. In t h e sequence -L)BAT, in which the C main line is abortive, t h e 6 related persons out of the total of 15 were 3 parent-offspring combinations. This suggests t h e possibility t h a t a n abortive C main line may be monogenically determined. The sequence of CBE,,AT contains a n accessory triradius on t h e radial side of the d triradius. An unusual and extra feature, such as an accessory triradius, might be more readily detected in such a study t h a n more corninon features in t h e event of monogenic determination. Five of t h e eight persons with this sequence were related; they were parentoffspring combinations. There was similar evidence for t h e possibility of single gene control of the accessory triradius in t h e m a i n line sequence of CE, ,BAT, a sequence like t h e foregoing but for the placement of t h e B line. Thus, 5 of 11 persons with the sequence were related, specifically, as father and 2 offspring and mother and her offspring (table 9). Similar findings occurred in a n o t h e r sequence with a n accessory triradius, E, ,RAT, in which t h e c triradius is absent. Two sisters had the pattern, and, though the same sequence existed in neither parent, the mother had a n accessory triradius bilaterally, and t h e father had unilateral absence of the c triradius. Segregation of t h e offspring for t h e hallucal patterns was less suggestive of single gene determination than was the distribution in the three palmar areas, Table 11 indicates t h a t t.he determination of hallucal patterns is probably not by a single locus with dominance of a n allele, or a t least, t h e data according to our organization leads t o this interpretation. The basis for our grouping all loops was t h e possession of one triradius, regardless of site, versus two triradii in t h e case of a whorl. LITERATUKE CITED Cummins, II., and C Midlo 1961 Finger Prints, Palms and Soles. An introduction t o Dermatoglyphics. Dover Publications, Inc.. New York. David, T. J 1971 'Ridges-off-the-end' - a dermatoglyphic syndrome. Hum. Hered.. 21: 39-53.
INHERITANCE OF DERMATOGLYPHIC PATTERNS Juberg, R. C., L. Y. Morgan and C . C. Faust 1977 l n h e r i ~ tance of derniatoglyphic patterns in 54 American Caucasian families. Read before the HaroldCummins Memorial Dermatoglyphics Symposium, Gulf Shores, Ala., March 30, 1977. Kloepfer. H. W. 1977 Detection of carriers of absent Ctriradius. Read before t h e Harold Cummins Memorial Derrnatoglyphics Symposium, Gulf Shores. Ala., March 30, 1977.
447
Ludy, J. B. 1944 Congenital absence of fingerprints. Arch. Dermat. Syph., 49: 373. Morgan, L. Y.. and R. C. Juberg 1977 Terminology in dermatoglyphics. Am. J . Hum. Genet., 29: 210-211. Schaumann. B., and M. Alter 1976 Dermatoglyphics in Medical Disorders. Springer-Verlag, New York. Slatis, H. M., M. B.-M. Katznelson and B. Bonne-Tamir 1976 The inheritance of fingerprint patterns. Am. J. Hum. Genet.. 28: 280-289.
LESLIE Y. MORGAN,' RICHARD C. JUBERG I
K E Y WORDS Dermatoglyphics . Inheritance
.
Palms
.
Soles
.
Louisianians
ABSTRACT
We searched for single gene effects determining certain palmar and plantar patterns - two interdigital and the hypothenar areas. palmar main line sequence. and hallucal pattern. Our subjects were 108 parents from central Louisiana and 123 of their offspring; there were 127 females and 104 males. For the third and fourth interdigital areas, we classified for presence of a pattern ( + ) or no pattern ( - ) . For the hypothenar area, we classified arch, anteform, and open field as no pattern ( - ) and other configurations a s a pattern ( + ). Main line sequence we determined by the distal to proximal ordering of the five main lines. We analyzed the hallucal area by combining three loop patterns. Segregational analyses followed. For the third interdigital area, the frequency of + was 51%.For the fourth was 51%.In the hypothenar area, the freinterdigital area, the frequency of was 45%. We set out the six mating types by the bilateral occurquency of rence of pattern in each area and found similar results. The proportion of + offspring was highest with both parents and diminished as the parents became increasingly more - -. Evidence for genetic determination of six different main line sequences consisted of the proportion of related/(related + unrelated) which averaged 0.48. Parent-offspring occurrence of an accessory triradius and absence of the c triradius suggested monogenic control. Segregation of the hallucal patterns was less suggestive. We conclude that the results offer evidence for substantial genetic determination of palmar dermatoglyphics, and for some patterns possible monogenic determination
+
+
++
Aside from anecdotal reports only two prior investigations have furnished evidence regarding monogenic determination of dermatoglyphic patterns (Slatis et al., '76; Juberg et al., '77). Slatis and coauthors introduced the concept of single gene control of digital patterns beyond the occurrence of private genes (David, '71;Ludy, '44). The concept of commonly occurring individual genes for single digit or whole-hand sequence patterns had not been investigated before Slatis and coauthors looked a t the Habbanites and we studied LouiAM. J. PHYS. ANTHROP. (1978)49: 441-448.
+
sianians (Slatis et al., '76; Juberg et al., '771, although it had been brought out (Schaumann and Alter, '76) that dermatoglyphics may be characteristic in heritable syndromes, particularly those due to chromosomal abnormality. To date, the palm and the sole have not been similarly considered. Our purpose in this study was to search for single gene effects in determining palmar and hallucal dermatoglyphic patterns. We fol' Correspondence to Richard C. Juberg, M.D., Ph.D.. Children's Medical Center. 1735 Chapel Street, Dayton, Ohio 45404.
44 1
442
LESLIE Y MORGAN, RICHARD C. JUBERG AND CHARLES C. FAUST
lowed the same procedure we had used previously in seeking evidence of monogenic determination in digital patterns (Juberg et al., ’77).
TABLE 1
Segregation
third interdigital patterns Offspring
Mating type
MATERIALS
Our subjects were 108 parents from central Louisiana and 123 of their offspring. There were 127 females and 104 males ranging in age from 8 to 66 years. The probands of our investigation were students in the summer 1974 session of Louisiana State University a t Eunice. Two groups of students were enrolled at the time of our study, the undergraduates of this and other schools attending the summer session and a group between their third and fourth years in high school, enrolled in what was called the “Sharp” program, offered for students with relatively high academic standing. In choosing the subjects, we insisted that both biological parents be available. We studied as many of the probands’ siblings as were accessible. Thus, we tested 69 of the 171 siblings of our 54 probands. The total number of subjects in our study was 231.
of
Proportion
N + + X + +
+ + x + + + x - f
-
X
+- x --
x
t
-
--
N
2 7 8 5 18 14
+-
t+
2
19 16 13
0.19 0.08 0 12 0.12
40 33
- -
0.50 0.42 0.25 0.77
0.50 0.26
0.30 0.27
-
0.32
0.56 0.15 0.58 0.61
TABLE 2
Segregution of fourth interdigital patterns Offspnng
Mating type
+ t x + + + + x + + + X - -
Proportion
h
N
5 4 15
12 5
X - -
3 13
-- X - -
14
+ - x + i
++ 0.75
0.20 0.51
39 7 33
-~
0.17 0.40
0.08 0.40 0.26 0.86 0.59 0 70
0.23
-
0.14 0.07 0.12
27
t-
0.33 0.18
METHODS AND RESULTS
The palm seemed t o be a complex area in which to look for monogenic inheritance. Therefore, we began by analyzing three specific areas which are physically separated and in which a pattern frequently occurs, namely, third interdigital, fourth interdigital, and hypothenar. In order to consider the palm more as a whole, we utilized the sequence of the main lines. For our analyses of the first three specific areas, we elected t o consider the presence of a pattern or no pattern. We defined as positive ( + ) any true pattern and defined as negative ( - ) the absence of a true pattern, including the so-called vestige or anteform (Morgan and Juberg, ’77).
+
+
spring who were +, -, and - - for each offspring mating type. The proportion of and was highest when both parents were it diminished in other mating types, specifically going from 0.50 to 0.12, or to 0.08 in t.he - x - mating, from which there were fewer offspring. Conversely, the proportion of - - offspring was lowest when both parents were + +, and it increased as the mating type of the parents included more minuses.
+
++
+ +,
+
Fourth interdigital area As we did for the preceding region, we and the absence of scored a true pattern as a true pattern as -. The frequency of a true pattern was 0.51, the same as for the third interdigital area. The frequency of bilateral OCThird interdigital area currence was 0.56 and of unilateral occurThe frequency of a true pattern was 0.51; rence 0.44, which differed from the third in. the frequency of bilateral occurrence was terdigital by the greater frequency of bilateral 0.32, of unilateral occurrence 0.68. We con- occurrence. As in our analysis for the third insidered six mating types with regard to the terdigital area, we defined six mating types bilateral occurrence of patterns as follows: according to the bilateral occurrence of a patx ++; x +--; x --,+-x tern. Table 2 shows the segregation of the +--. + - x , a n d - - X --.Thus, we offspring. The proportion of + offspring was utilized all of the data because every mating greatest when both parents were + + and difell into one of these mating types. Table 1 minished as the parental mating types inshows t h a t we looked a t the proportion of off- cluded more minuses, as was generally ob-
++
++
++
+
+
INHERITANCE OF DERMATOGLYPHIC PATTERNS 1.4BLE 3
Segregation of hypoiheriar patterns
~
z
N + + x + t T
1
x t -
t i X
-
+ - x
+
+ - A
-
9
3 5 17 3
12 33 6 29 34
12
- - x - -
14
0.48, of unilateral occurrence 0.52. Considering the aforementioned six mating types, we looked a t segregation of t h e offspring. The results were similar to those for t h e prior two a r e a s (table 3 ) . The proportion of + offspring was greatest when both parents were + and progressively decreased as t h e parents became more - -. The proportion of _ _ offspring was least when both parents were + + and increased as the parents became more - -.
+
Proportion
Mating type
443
+t
+-
067 042 015 (I 17
011 008 039 033
007
021
OR0 072
009
021
071
~-
022 050 046
+
Main lines TARLE 4
Frequency of muin line sequences Sequence
Frequenc)
Number
0.307 0.203
142 94 61 21 17
CBDAT CDBhT DCBAT BDAT DBAT - DBAT CDBTA RCDAT CE, ,SAT BDAT Ail others Total
0.132 0 045 0.037 0.035 0 026
~
0.024 0.024 0 019 0 147
16 12 11 11 9
66 462
served in t h e third interdigital area. The proportion of - - offspring was least when both parents were +- + and tended to augment as t h e parents became more -~-. The small numbers in our study preclude comment on - offspring. t h e proportion of
+
Hypothenar area
+
Our definition of incorporated the occurrence of a whorl, radial loop, ulnar loop, carpal loop, tented arch whet,her ulnar, radial, or carpal (Cummins and Midlo, ’61, where the distinction is made between “. . . plain arches, vestiges and t r u e patterns together, . . .”), spattern, and all combinations which incorporated at least one t r u e pattern. We scored a s - : a n ulnar arch, radial arch, carpal arch, anteform, open field, and t h e combinations which did not include at least one t r u e pattern. The parathenar pattern we scored as - . We found two possible y-patterns. We scored one as a t r u e pattern but decided t h a t t h e other was not a pattern. With these definitions, t h e frequency of a t r u e pattern was 0.45, and thus the frequency of absence was 0.55. The frequency of bilateral occurrence was
The concept of a main line sequence we a t tribute to Kloepfer.5 By his definition, the sequence is determined by beginning distally a t t h e base of the third digit and progressing proximally through the center of t h e palm listing t h e main lines in order of encounter. In t h e most common sequence, called CBDAT, t h e C main line is first encountered and then t h e BDA main lines, in order, until finally t h e T line is crossed. Table 4 gives the frequency of t h e main line sequences in t h e 462 palms of our Louisiana population. We had to devise supplementary definitions for the exceptions to the usual occurrence and distribution of five main lines. An “E” represented a n accessory triradius, and a subscript defined its position on t h e palm, for example, t h e “d” triradius a t 6 and its accessory triradius at 6.1. A “ - ” stood for a n ahortive main line parallel t o t h e sequencing axis. A letter with a subscripted “a,” such as “D,,” indicated an abortive main line perpendicular to t h e sequencing axis. Parallel constructions we represented by two parallel lines between the letters of t h e two main lines, thus, CIID. The following six palmar line sequences displayed the most familial aggregation. Sequence CDBTA
The frequency was 2.60% (12 palms/462 palms), occurring unilaterally on the left in all 12 persons. Of t h e 12 persons, 8 were related: 218 in two generations (parent-offspring) and 6/8 in one generation (siblings) (table 5). Sequence DBAT The frequency was 3.68% (17 palms/462 palms), occurring unilaterally on t h e left in 6 persons, unilaterally on the right in 5, and bilaterally in 3 persons. Of t h e 14 persons, 4 - _ _ ~
‘ 111 a cunversation
with H. W. Kloepfer. Ph.D.. in .January 1972.
444
LESLIE Y. MORGAN, RICHARD C. JUBERG AND CHARLES C. FAUST TABLE 5
Palmar main line sequence CDBTA Sequence Suhject
Lest
Right
!
C,DBTA
- BDAT
Father { Daughter
CDBTA
CBDTA
1 of 6 iihs
{ Son
CDBTA
CDBAT
Father
[ Son
CDBTA
CDBAT
Mother DCBTA, CDBAT
{ Son
CDBTA
CIIBAT
Eather CIIDBTA, CBDAT
{ Daughter
CDBTA
CDBAT
Mother CDBAT, CDBAT
{ Daughter [ 1 Daughter
CDBTA
CBDAT
Father CBDAT, CBDAT
CDBTA
-
BDAT
Mother CBDAT, CBDAT
Note
Related
i
I
- DBAT,
CBDAT
I In this and all niicc~edingtahlea, the note about sibs refers to t h e numher studied and not the total in the slhsh~p. Tikcwise. the nuniher of offspring indicated after a parent refers to the number studied and not t h e total horn to t h a t parent.
TAR1.E 6
Palmar main line sequenrr DRAT Sequence Suhicct
Related 1 Son
1 1 Daughter I Son
Left
-BDAT
Right
lote
DBAT
2 of 4 sibs
DRAT
CBDAT
Father: CBDAT, CDBAT Mother: CBDAT, CII BDAT
DCBAT
DBAT
2 of 3 sibs
DBAT
DBAT
Father: DCBAT. CDBAT Mother, CDBAT, DCBAT
I
1 Daughter
TABLE 7
were related: 414 in one generation (siblings? (table 6).
Palmar main line sequence -DRAT
Sequence -DBAT
The frequency was 3.46% (16/462), occurring unilaterally on the left in 12 persons, unilaterally on the right in 2, and bilaterally in 1. Of the 15 persons, 6 were related: all 6 occurred in two generations (parent-offspring) (table 7). Sequence CBE, ,AT
The frequency was 1.95% (9/462), occurring unilaterally on the left in 4 persons, unilaterally on the right in 3, and bilaterally in 1. Of the 8 persons, 5 were related: all 5 occurred in two generations (parent-offspring) (table 8 ) . Sequence C E , ,BAT
The frequency was 2.38% (11/462?, occurring unilaterally on the left in 10 persons, uni-
Sequrncr Subieci
Related { Father
Left
Right
-DBAT
CBDAT
i Son
-DBAT
CBDAT
{ Mother
-DBAT
CBll DAT
{ Son
-DBAI
CBDAT
1 Father
CDBAT
-DBAT
( Daughter
-DBAI'
CDBAT
i
1
Note
of 3 sibs
of 5 sibs
!
1 of 2 sibs
laterally on the right in 1, and never bilaterally. Of the 11 persons, 5 were related: all 5 occurred in two generations (parent-offspring) (table 9).
INHERITANCE OF UERMATOGLYPHIC PATTERNS
445
TAbLE 8
TABLh 9
Palmar main line sequence CBE, ,AT
Palmar m a m line SeQuence CE, ,RAT
Sequencr
Sequence
Left
Subject
Rdated I Father
Right
Related ( Father
CBE, ,AT CBE, ,AT
CBEf AT BCDAT
1 of 4 slbs
Rieht
CE, ,RAT DCBAT
I I Son
I { Daughter
Left
Subject
Not?
Note
1 other offspring
CE, ,BAT DBAT
I
{ Mother
CE, ,BAT CBE, ,AT 3 other offspring
1 Daughter
CE, lBAT CBDAT
i i Son
CBE, ,AT CBDE,, ,T
ii
CE, ,BAT CAE, ,AT
{
1 Son
CE6 BAT CBE,,AT
Mother Son
CE, ,BAT CBEs , A T 1 of 5 sihs
TABLE 10
Palmar main line sequence E , ,BAT Srqurnce - ~ _ _ _ _ Left Right
Subject
Related Daughter Daughter
E6,BAT E,,BAT
Note
CRDAT CBDAT
2 of 5 sibs Father BDA'I', CBDAI' Mother CE, ,BAT, CBEr ,AT
TABLE 11
Segregation
hallucal patterns
i$
Offspring Mating typ?
LL x LL 1,L x 1,w LL x ww
LW x LW LW x ww
ww
x
ww
Proportion S
N
LL
LW
WW
Other
I1 9 3 17 1 5
27 22 5 39 1 12
0.63 0.50 0.20 0.59 1.00 0.42
0.15 0.23 0.60 0.10
0.15 0.18 0.20 0.23
0.07 0.09
Sequence E 6,BAT The frequency was 1.08%(514621, occurring unilaterally on the left in 3 persons, never unilaterally on t h e right, and bilaterally in 1. Of the 4 persons, 2 were related: they occurred in one generation (siblings) (table 10).
Hallucal region We found t h e frequency of hallucal patterns to be: 0.53 distal loop; 0.33 whorl; 0.07 tibial loop; 0.03 fibular arch; 0.03 open field; 0.006 tented arch; 0.006 fibular loop; and 0.002 a n t ef orm . For t h e purpose of investigating segregation, we defined three phenotypes: whorl bilaterally (WW); whorl on one side and loop on t h e other (WL); loop bilaterally (LL).Thus. we combined t h e three loop patterns, namely, dis-
-
-
0.17
0.42
~
0.08 ~
tal, tibial, and fibular into one group. Table 11 shows t h a t there were 46 matings which produced 106 offspring. Although t h e proportion of LL offspring was greatest when both parents were LL, it did not diminish as t h e parents became more WW. However, the proportion of WW children was greatest when both parents were WW and did tend to diminish as t h e parents became increasingly more LL. The relatively small numbers constrain more extensive interpretation. DISCUSSION
The frequency of patterns we found in t h e third and fourth interdigital and in t h e hypothenar areas was similar to t h a t previously reported (Cummins and Midlo. '61). The segregational data for these three areas
446
LESLIE Y. MORGAN, RICHARD C JUBEHG A N D CHARLES C. FAUST
were generally similar. In none was there a mating in which the parents had t h e same phenotype and produced only offspring with t h a t same phenotype. Thus, from t h e - - x _ - matings in each palmar area, about three-tenths of the offspring were either tor + -, and, similarly, from the + x + matings i n t h e f o u r t h interdigital a n d hypothenar areas, approximately one-fourth of t h e progeny were either -t- or - - . We interpret these results to mean t h a t there is not a single locus with a completely recessive allele controlling t h e presence of a patt.ern. Further, in none of t h e matings for any of t h e three areas was there evidence for complete dominance of a n allele determining either presence of absence of pattern. Specifically, grouping either t h e three + or - - parents in any of t h e three areas does not result in just + or -~offspring as would be expected if there were homozygosity for a completely dominant gene. Additional evidence against the presence of a single locus with two alleles and dominance lies in the absence of t h e 1:2: 1 phenotypic ratio among the progeny from t h e - X - matings. If control of a pattern in these areas resides at. a single locus^ then our data suggest t h e presence of incomplete recessivity or possibly incomplete dominance. The pattern of occurrence of the offspring in tables 1,2, and 3 attests to genetic determination, for t h e proportions are clearly not random. In fact. we interpret t h e segregational results to suggest substantial genetic determination. In considering t h e sequence of main lines, our objective was to search for evidence of single genes effecting a portion of a sequence or presence or absence of a feature. I t seemed unlikely t h a t one locus might control the pattern of as many as five lines emanating from five separate areas, although there is evidence for monogenic control of whole hand digital sequences (Juberg e t al., ' 7 7 ; Slatis et al., ' 7 6 ) . In t h e palmar main line sequence of CDBTA, among t h e 8 related of the total of 12 persons with unilateral occurrence, there were one father and his daughter and three pairs of siblings. One parent of each of two of t h e latter pairs had TA at t h e end of another sequence. This seemed noteworthy because a TA sequence is unusual, t h e more common order, by far, being AT. In t h e sequence of DBAT, where t h e c triradius is absent, there were only 4 related persons out of 14 with t h e sequence. These four
+
+
+
+
~
+
+
+
were two pairs of siblings, and none of their parents manifested c triradial absence. Rut one parent of one sihship and both parents of t h e other possessed a DBAT sequence, albeit preceded by the C. None of t h e other siblings in either family was missing the c triradius. Kloepfer ('77) has observed hereditary determination of t h e missing c triradius. In t h e sequence -L)BAT, in which the C main line is abortive, t h e 6 related persons out of the total of 15 were 3 parent-offspring combinations. This suggests t h e possibility t h a t a n abortive C main line may be monogenically determined. The sequence of CBE,,AT contains a n accessory triradius on t h e radial side of the d triradius. An unusual and extra feature, such as an accessory triradius, might be more readily detected in such a study t h a n more corninon features in t h e event of monogenic determination. Five of t h e eight persons with this sequence were related; they were parentoffspring combinations. There was similar evidence for t h e possibility of single gene control of the accessory triradius in t h e m a i n line sequence of CE, ,BAT, a sequence like t h e foregoing but for the placement of t h e B line. Thus, 5 of 11 persons with the sequence were related, specifically, as father and 2 offspring and mother and her offspring (table 9). Similar findings occurred in a n o t h e r sequence with a n accessory triradius, E, ,RAT, in which t h e c triradius is absent. Two sisters had the pattern, and, though the same sequence existed in neither parent, the mother had a n accessory triradius bilaterally, and t h e father had unilateral absence of the c triradius. Segregation of t h e offspring for t h e hallucal patterns was less suggestive of single gene determination than was the distribution in the three palmar areas, Table 11 indicates t h a t t.he determination of hallucal patterns is probably not by a single locus with dominance of a n allele, or a t least, t h e data according to our organization leads t o this interpretation. The basis for our grouping all loops was t h e possession of one triradius, regardless of site, versus two triradii in t h e case of a whorl. LITERATUKE CITED Cummins, II., and C Midlo 1961 Finger Prints, Palms and Soles. An introduction t o Dermatoglyphics. Dover Publications, Inc.. New York. David, T. J 1971 'Ridges-off-the-end' - a dermatoglyphic syndrome. Hum. Hered.. 21: 39-53.
INHERITANCE OF DERMATOGLYPHIC PATTERNS Juberg, R. C., L. Y. Morgan and C . C. Faust 1977 l n h e r i ~ tance of derniatoglyphic patterns in 54 American Caucasian families. Read before the HaroldCummins Memorial Dermatoglyphics Symposium, Gulf Shores, Ala., March 30, 1977. Kloepfer. H. W. 1977 Detection of carriers of absent Ctriradius. Read before t h e Harold Cummins Memorial Derrnatoglyphics Symposium, Gulf Shores. Ala., March 30, 1977.
447
Ludy, J. B. 1944 Congenital absence of fingerprints. Arch. Dermat. Syph., 49: 373. Morgan, L. Y.. and R. C. Juberg 1977 Terminology in dermatoglyphics. Am. J . Hum. Genet., 29: 210-211. Schaumann. B., and M. Alter 1976 Dermatoglyphics in Medical Disorders. Springer-Verlag, New York. Slatis, H. M., M. B.-M. Katznelson and B. Bonne-Tamir 1976 The inheritance of fingerprint patterns. Am. J. Hum. Genet.. 28: 280-289.
