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COM MITTEE REPORTS

Cytogenet. Cell Genet. 22: 61-73 (1978)

Report of the committee on the genetic constitution of chromosome 1 Prepared by

P.J.L. Cook and W.G. B urgerhout (co-chairmen)

The assignment of 17 loci to chromosome 1 has now been confirmed. There are four further provisional assignments, including GDH and AdV12-cms-lp, which have been assigned since the last report of this committee (Baltimore Conference, 1975). These 21 loci are listed in table I. The regional assignments for many of the markers are given in figs. 2 to 9, which summarize the information available from independent partial deletions of chromosome 1 in patients or somatic cell hybrids. The smallest region of overlap (SRO) or smallest region (SR) is also indicated for each marker. The regional assignments are also summarized in fig. 1a, while the gene order from hybrid studies is shown in fig. lb. New evidence ( F rancke and G eo rg e , 1977) suggests that PGMi lies in the lp22.1-*-lp31.1 segment, but this assignment conflicts with earlier evidence (B u r g er h o u t et al., 1977a) placing it in lp32. PEPC has been assigned to lq42 (J ong sm a and B u r g e r h o u t , 1977), but the findings in a trisomic child might place PEPC in or proximal to lq25 (C ook et al., 1977a). The map and gene order obtained from family studies (fig. id) are based on data summarized in the previous report (Baltimore Conference, 1975) and by M ey ers et al. (1977), L e w is et al. (1977a), C orn ey et al. (1977), and C ook et al. (1977a). The distances given are in male or female recombination fractions. Those marked with an asterisk (*) were obtained by subtraction, and those within circles are considered to be relatively unreliable. No recombinants have been observed between Sc and UMPK (L e w is et al., 1977a), nor have they been reported between ENO/ and PGD. There is now little doubt that Fy lies on lq distal to Iqh (C ook et al., 1977c; M ey ers et al., 1977; P almer et al., 1977). El, and

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Other committee members: G.B. CÔTÉ, D.L. G eorge, U. F rancke, S.J. G oss , K..-H. G rzeschik, J.L. H amerton, H. K aita, G.A. Koch, M. L ewis , E.W. L ovrien, D.A. M eyers, and R.S. Sparkes

Cook, B urgerhout Chromosome 1

62

Method“

References^

Confirmed assignments ENO, cnolase-1 (E.C. 4.2.1.11)

Fi', S

PCD

S, F»

AK-,

phosphogluconate dehydrogenase (E.C. 1.1.1.44) adenylate kinase-2 (E.C. 2.7.4.3)

El,

elliptocytosis {Rh linked)

Fb

Rh

rhesus blood group

F

(iFUC

a-L-fucosidase (E.C. 3.2.1.51)

S, F'-

VMPK

S, Fb

AM Y,

uridine monophosphate kinase (E.C. 2.7.4.*) phosphoglucomutase-1 (E.C. 2.7.5.1) « amylase (salivary) (E.C. 3.2.1.1)

AM Y o

u amylase (pancreatic)

F

Fy

(E.C. 3.2.1.1) Duffy blood group

F

G iblett et al. (1973); M eera K han et al. (1973) W eitkamp et al. (1971); W esterveld and M eera K han (1972) Van Cong et al. (1972); S hows and Brown (1974) G oodall et al. (1953); Morton (1956) R enwick (1971); M arsh et al. (1977) T urner et al. (1975); CORNEY et al. (1977) G iblett et al. (1974); Satlin et al. (1975) Van Cong et al. (1971); R uddle et al. (1972) K amaryt et al. (1971); Mohr et al. (1975); M erritt et al. (1973); R ivas et al. (1975) Donahue et al. (1968); Cook et al. (1977c) R enwick and L awler (1963); Conneally et al. (1977) van Someren et al. (1974); G oss and H arris (1977) Meera K han et al. (1973); M cA lpine et al. (1975c) R uddle et al. (1972); J ongsma et al. (1973) Steffensen et al. (1973); J ohnson et al. (1973) van Someren et al. (1974); C raig et al. (1975)

Locus

PGM,

Name

S

S, Fb

F

zonular pulverulent cataract (Fy linked) UDP glucose pyrophosphorylasc (E.C. 2.1.1.9) guanylate kinase-1 (E.C. 2.7.4.8)

Fb

S

RN5S

peptidase C (E.C. 3.4.11.* or 3.4.13.*) 5S RNA

FH

fumarate hydratase (E.C. 4.2.1.2)

S

Cae UGPP, GUK, PEPC

Provisional assignments AdV-cms-lp adenovirus-12 chromosome AdV-cms-lq

modification site lp adenovirus-12 chromosome modification site lq

S S

A

S

Steffensen et al. (1976)

S

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Table I. Gene loci assigned to chromosome 1.

Cook, Burgeriiout Chromosome 1

63

Table / (continued) Locus

Name

Method“

References"

GDH

glucose dehydrogenase (E.C. 1.1.1.47) Scianna blood group

S

H ameister et al. (1977)

FI)

L ew is et al. (1977«)

F'' F>> FI'

L ewis et al. (19776) S pence (19776); Spence et al. (1977«) C hautaro-F reira-M aia (1977)

F''

Lovrien et al. (1977); Magenis et al. (1977)

Sc T e n ta tiv e

Do RP, Tf.E, AT-3

assignments Dombrock blood group retinitis pigmentosum-1 transferrin and cholinesterase (serum)-l antithrombin III

“ S = somatic cell hybridization; F - family studies; A = in situ hybridization. l>Indirect assignment by linkage with an assigned locus. c Only two references have been given for each confirmed assignment in this table. These have been selected either for historical reasons or because they illustrate different approaches to assign­ ment, or because they are not listed elsewhere in this report. Other references will be found in the text, SRO diagrams, or previous three reports of this committee.

shown in fig. 1 are in good agreement. The tentative assignments are included in table I because of hints of linkage between the following groups of loci: Do with PGD; RPj with Rh; Tj and E, with PGD; and AT-3 with Fy. The evidence for their assign­ ment is weak but they are included as ‘‘tentative” assignments to indicate the need for further data on these loci. AOD is omitted because the original family (K imberi.ing, 1972) and a further family no longer sup­ port a claim for assignment (E.W. Lovrien, personal communication to this committee). An association reported between Grn + 1 and Rh CC (WicitMANN, 1976) cannot be interpreted as linkage because Gm has been excluded from the whole of the PGD.PGM/ region (Noades and Cook, 1976).

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uFUC probably lie in the order shown (Cook et al., 19776) but could exchange positions. The 5S rRNA locus has been shown to lie distal to AclVJ2-cms-lq (Steeiensen et al., 1976). The gene order deduced from radiation-induced gene segregation (G oss and H arris, 1977) is shown in fig. lc. The maps

MALE

J 1

ENO,

ENO,

PGM^d

A* 2

PGD-ENO,

J UMPiy

* £

- - ENO,

A dV -C M S -lp

Rh p g m

*FUC

UMPK GDH

_2

- - «FUC

10 --

a k

2

31

PGM, -

] ph D

Coe

Fy

n AdV 1 2 - C M S RN5S

-

>A_o; PEP C -

--

]

UGPP,

AO

¿1

Chromosome 1

I

2 -

6

Ü ( 2 6)

I

GUK,

]

a m y

1qh

GUK,

I

PEP C C

AO

7 AMY, 18

UGPP,

33 =

©

30

I

PEP C

29* = 2 _

Sc UMPK = 0 “ J W

- - UMPK - - PGM,

PGM,

PEP C C

El Rh 1

(25

I

UGPP,

_

? fu c- 2

8*

20

PGD

C ook , B urgerhout

A K 2 - » FUC

18

20

I I

PGM* ^

J

FEMALE

1P

- - PEPC

FH --

FH

iq

A

B

C

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1

65

Cook, B urgerhout Chromosome 1

Fig. 1. Comparison of maps of chromosome 1 as obtained by different approaches. A. Regional assignments based on studies involving chromosomal aberrations which have been detected cytologically. Asterisks indicate inconsistent assignments. B. Gene order based on somatic cell hybrid studies. C. Relative positions of genes based on radiation-induced gene segregation (Goss and H arris, 1977). D. Recombination fractions at peak lod scores from family data. Asterisks indicate distances which have been calculated by subtraction. Encircled values arc considered relatively unreliable. Figs. 2-9. Regional assignments for 14 loci assigned to chromosome 1. Each line represents evidence from a different clone or patient. The smallest region of overlap (SRO) is indicated on the diagrams. Evidence from references 9, 11, and 19 is based on exclusions, and some of the evidence from clones could also be con­ sidered to be based on exclusions. Numbers above or below brackets refer to the following reports: (1) D ’A ncona et al. (1977); (2) B urgerhout (1977); (3) Burger­ hout et al. (1974); (4) Burgerhout and J ongsma (1975); (5) Burgerhout ct al. (1977a); (6) Burgerhout ct al. (1977b); (7) Burgerhout et al. (1975); (8) Busby et al. (1975); (9) C ook ct al. (1977a); (10) Douglas ct al. (1973); (11) F ergusonSmith (1974); (12) F rancke and G eorge (1977); (13) G rzeschik (1974); (14) H ameister ct al. (1977); (15) J ongsma and Burgerhout (1977); (16) J ongsma et al. (1973); (17) Koch et al. (1977); (18) M cA lpine et al. (19756); (19) M arsh et al. (1974); (20) P ovey et al. (1976); (21) Snows and Brown (1974); (22) Snows and Brown (1975); (23) Steffensen et al. (1974); (24) Steffensen ct al. (1976); (25) W it et al. (1975); (26) Brauncer et al. (1977).

GDH

ENO, pter r p36 c

14 14

1 3 3 5 5 5 5 5 12 12 12 13 14 14 15 15 15 f t 20 21 25

J

JSRO

p34 p32 P31 p3!1 p22 p221 p21

SRO

q2i q23 q25

q31

2 q'«r

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q42

66

Cook, Burgerhout Chromosome 1 PGD p te r

1

3 3 5

5 5 7 7

AK2

8 10 12 15 15 15 16 18 25

12 12 13 14 14 21 SRO

SRO

p34 p33

P32 p 311 p22 p221 p2t

q21 q2 3 q25 q31 q3 2 q42

3

q ter

Rh

OCFUC

11 19

p te r

UMPK

6 6 6 17

2 2

4 4

4 4 4 6

12 12 12 22

SRO p3 4 P32 Ip 311 p 22 p 221 P 21

-

q21

.

SRO

-S R O : p32

q25 q32

q le r

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q42

4

C ook, Burgerhcu r

Chromosome 1

67

PGM, 1 3 3

p tc r

5 5 5 5

7 7 8 10 11 12 12 12 13 15 15 15 16 18 19 20 21 25

p36 3 conflicting SROs: p34 p33 p32

2

p33— p34

-

p32

p311 | p221— p311

p22 p221

p21

q2 i q23 q25 q31 q32

-

q42 qter

UGPPj

1 py

p tc r p

i

i

p34 p32 -

-,

P22 -

cen n q l2

-

q2i q2 3 q25 q 31 -

-

q32 -

-I

q«2 -

qterL J

6

H

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5

Cook, Burgerhout Chromosome 1

68

G U K,

RNsS

1

1 SRO 23 23 24

PEPC 1 p tc rr p36 p34 p33 p32 •

p22 p21

œn q l2 q21 q23

2 c o n flic tin g SROs: -q 2 5

q25 ■ q3i

qter -

1 3

3 5

5 5

5 7 7

9 » 13 14 14 15 15 15 15 15 15 16 18 20 21 25

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—q42

q42 -

Cook, Burgerhout Chromosome 1 1

69

FH

p tc r r-

p34 p32 -

p22 p21 can q'2

q2i

q31 q32

q42

]]

q le r 3

3

5 5 5 5 5 5 6

: SRO

8 13 15 15 15 15 15 15 16 21 25 26

References Braunger, R.; R u n s , H.; K rone, W.; Schmid, M , and O lert, J.: Gene dosage

fumarate hydratase and guanylate kinase on chromosome 1 and for lysosomal

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effect for fumarate hydratase (FH; E.C. 4.2.1.2) in partial trisomy 1. Hum. Genet. 38: 65-75 (1977). Burgerhout, W.G.; A standard procedure for gene assignment by use of somatic cell hybrids. This conference (1977). Burgerhout, W.G. and J ongsma, A.P.M.: The regional map of chromosome 1 of man. Baltimore Conference (1975), pp. 101-104. Burgerhout, W.G.; J ongsma, A.P.M.; de W it , J.; van Someren, H., and M eera K han, P.: Regional mapping of seven enzyme loci on human chromosome 1 by use of somatic cell hybridization. Rotterdam Conference (1974), pp. 90-92. B urgerhout, W.G.; L eupe-de Smit, S., and J ongsma, A.P.M.: Regional assignment of seven genes on chromosome 1 of man by use of man-Chinese hamster somatic cell hybrids. II. Results obtained after induction of breaks in chromosome 1 by X-irradiation. Cytogenet. Cell Genet. 18: 267-283 (1977a). B urgerhout, W.G.; L eupe-de Smit, S.; de W it , J., and J ongsma, A.P.M.: The regional map of chromosome 1 of man (II). This conference (19776). B urgerhout, W.G.; van Someren, H., and Bootsma, D.: Cytological mapping of the genes assigned to the human A1 chromosome by the use of radiation induced chromosome breakage in a human-Chinese hamster hybrid cell line. Humangenetik 20: 159-162 (1973). B usby, N.; Courval, J., and F rancke, U.: Regional assignment of the genes for

C ook, Burgerhout Chromosome 1

70

acid phosphatase and esterase A4 on chromosome 11. Baltimore Conference (1975), pp. 105-107. C hautard-F reire -M aia, E.A.: Probable assignment of the serum cholinesterase (Ej) and transferrin (Tf) loci to chromosome 1 in man. Hum. Hered. 27: 134-142 (1977). C onneally, P.M.; W ilson , A.F.; M erritt , A.D.; H elveston , E.M.; P almer, C.G., and W ang, L.V.: Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies. This conference (1977). Cook, P.I.L.; F ear, C.N., and Povey, S.: A lq translocation family segregating for peptidase C. This conference (1977a). C ook, P.J.L.; N oades , J.; N ewton , M., and de M ey, R.: On the orientation of the

Rh:Elj linkage group. Ann. hum. Genet. 41: 157-162 (1977b). C ook, P.J.L.; P age, B.M.; J ohnston , A.W.; Stanford, W.K., and G avin , J.: Four

further families informative for lq and the Duffy blood group. This conference (1977c). C orney, G.; F isher , R.A.; C ook , P.J.L.; N oades , J., and Robson , E.B.: Linkage between a-fucosidase and the rhesus blood group. Ann. hum. Genet. 40: 403-405 (1977). C raig, I.; T olley , E., and Bobrow , M.: Mitochondrial and cytoplasmic forms of fumarate hydratase assigned to chromosome 1. Baltimore Conference (1975), pp. 118-121.

gene for enolase 1 to region pter—>-p36 of chromosome 1. Cytogenet. Cell Genet. 18: 327-332 (1977). D onahue, R.P.; B ias , W.B.; R enwick , J.H., and M cK usick , V.A.: Probable assign­ ment of the Duffy blood group locus to chromosome 1 in man. Proc. natn. Acad. Sci. USA 61: 949-955 (1968). D ouglas, G.R.; M c A lpine , P.J., and H amerton, J.L.: Regional localization of the loci for human PGM] and 6PGD on human chromosome one using Chinese hamster-human somatic cell hybrids. Proc. natn. Acad. Sci. USA 70: 2737-2740 (1973). F erguson -Sm ith , M.A.: Gene mapping by exclusion. Rotterdam Conference (1974), pp. 126-129. F rancke, U. and G eorge, D.L.: Precise mapping of genes for phosphoglucomutase-1 and uridine monophosphate kinase on the short arm of human chromosome 1. This conference (1977). G ibeett , E.R.; A nderson , J.E.; L ew is , M., and Kaita, H.: A new polymorphic enzyme, uridine monophosphate kinase: gene frequencies and a linkage analysis. Rotterdam Conference (1974), pp. 159-161. G iblett , E.R.; C hen , S.-H.; A nderson , J.E., and L ew is , M.: A family study suggesting genetic linkage of phoshopyruvate hydratase (enolase) to the Rh blood group system. New Haven Conference (1973), pp. 91-92. G oodall, H.B.; H endry, D.W.W.; L awler , S.D., and Stephen , S.A.: Data on linkage in man: elliptocytosis and blood groups. II. Family 3. Ann. Eugen. 17: 272-278 (1953).

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D 'A ncona, G.G.; C hern , C.J.; B enn, P., and C roce, C.M.: Assignment of the human

71

Goss, SJ. and H arris , H.: Gene transfer by means of cell fusion. II. The mapping of 8 loci on human chromosome 1 by statistical analysis of gene assortment in somatic cell hybrids. J. Cell Sci. 25: 39-57 (1977). G rzeschik , K.-H.: Regional mapping of human chromosomes 1 and 11. Rotterdam Conference (1974), pp. 172-175. H ameister , H.; R opers , H.-H., and G rzeschik , K.-H.: Assignment of the gene for human glucose dehydrogenase (E.C. 1.1.1.47) to chromosome 1 using somatic cell hybrids. This conference (1977). Johnson , L.D.; H enderson , A.S., and A twood , K.C.: Location of the genes for 5S RNA in the human chromosome complement. New Haven Conference (1973), pp. 103-105. J ongsma , A.P.M. and B urgerhout, W.G.: Regional assignment of seven genes on chromosome 1 of man by use of man-Chinese hamster somatic cell hybrids. I. Results obtained after hybridization of human cells carrying reciprocal transloca­ tions involving chromosome 1. Cytogenet. Cell Genet. 18: 255-266 (1977). J ongsma , A.P.M.; van Someren , H; W esterveld , A.; H acemeijer , A., and P earson, P.: Localization of genes on human chromosomes using human-Chinese hamster somatic cell hybrids: assignment of PGM3 to chromosome C6 and regional mapping of the PGD, PGMt and Pep-C genes on chromosome Al. Humangenctik 20: 195-202 (1973). K ameryt, J.; A damek, R., and U rba, M.: Possible linkage between uncoiler chromo­ some U ni and amylase polymorphism Amy., loci. Humangenetik 11: 213-220 (1971). K imberling , W.J.: Computers and gene localization. In S.W. W right , B.F. C randell , and L. Boyer, eds.: Perspectives in cytogenetics: the next decade, p. 131 (C.C. Thomas, Springfield, III. 1972). K och, G.A.; Brown , J.A., and S how s , T.B.: n-L-Fucosidase (aFUC) localized to the p21-*pter region of chromosome 1 in man. This conference (1977). L ew is , M.; K aita, H.; G iblett , E.R., and A nderson , J.E.: Data on chromosome 1 loci Fy, PGMj, Sc, UMPK, Rh, PGD, and ENOt: two-point lods, R:NR counts, multipoint information, and map. This conference (1977n). L ew is , M.; K aita, H.; G iblett , E.R., and A nderson , J.E.: Genetic linkage analysis of the Dombrock (Do) blood group locus. This conference (19776). L ovrien , E.W.; M acenis , R.E.; R ivas , M.L.; G oodnight , S.; M oreland, R., and R ow e , S.: Linkage study of antithrombin III. This conference (1977). M agenis , R.E.; D onlon, T.; P arks, M.; R ivas , M.L., and L ovrien , E.W.: Linkage relationships of dominant antithrombin III deficiency and the heterochromatic region of chromosome 1. This conference (1977). M arsh , W.L.; C higanti, R.S.K.; G ardner, F.H.; M ager, K.; N ow ell , P.C., and G erman, J.: Mapping human autosomes: evidence supporting assignment of Rhesus to the short arm of chromosome No. 1. Science 183: 966-968 (1974). M c A lpine , P.J.; M ohandas, T., and H amerton, J.L.: Isozyme analysis of somatic cell hybrids: assignment of the phosphoglucomutase (PGM.,) gene locus to chromosome 4 in man with data on the molecular structure and human chromo­ some assignments of six additional markers. In C.L. M arkert, ed.: Isozymes. IV. Genetics and evolution, pp. 149 167 (Academic Press, New York 1975«),

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Cook, Burgerhout Chromosome 1

72

Cook, Burgerhout Chromosome 1

tions of four markers on chromosome 1 using a 1/4 translocation. Baltimore Conference (19756), pp. 197-200. M cD ougall, J.K.; E lsevier , S.M.; K ucherlapati, R.S., and R uddle , F.H .: Regional localization of human genes in virus-induced uncoiler regions. Rotterdam Con­ ference (1974), pp. 202-204. M eera K han, P.; D oppert , B.A.; H agemeijer , A., ar.d W esterveld , A.: The human loci for phosphopyruvate hydratase and guanylate kinase are syntenic with the PGD-PGMj linkage group in man-Chinese hamster somatic cell hybrids. New Haven Conference (1973), pp. 130-131. M erritt , A.D.; L ovrien , E.W .; R ivas , M.L., and C onneally, P.M.: Human amylase loci: genetic linkage with the Duffy blood group locus and assignment to linkage group I. Am. J. hum. Genet. 25: 523-528 (1973). M eyers , D.A.; M erritt , A.D.; C onneally, P.M.; N orton, J.A., J r .; R ivas , M.L.; Yu, P.L., and P almer , C.G.: Linkage group I: a statistically significant locus order from family studies. This conference (1977). M ohr , J.; E iberg , H., and Skude , G.: Some lod scores concerning chromosome 1. Baltimore Conference (1975), p. 340. M orton, N.E.: The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am. J. hum. Genet. 8: 80-96 (1956). N oades , J.E. and C ook, P.J.L.: Family studies with the Gm.Pi linkage group. Baltimore Conference (1975), pp. 341-344. P almer, C.G.; C hristian , J.C., and M erritt , A.D.: Partial trisomy 1 due to a “shift” and probable location of the Duffy (Fy) locus. Am. J. hum. Genet. 29: 371-377 (1977). P ovey , S.; S laughter, C.A.; W ilson , D.E., and Bobrow , M.: Evidence for the assignment of the loci: AK1, AK3 and ACONs to chromosome 9 in man. Ann. hum. Genet. 39: 413-422 (1976). R enwick , J.H.: The Rhesus syntenic group in man. Nature, Lond. 234: 475 (1971). R enwick , J.H. and L awler , S.D.: Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann. hum. Genet. 27: 67-84 (1963). R ivas , M.L.; C onneally, P.M.; L ovrien , E.W.; M agenis , R.E.; M erritt , A.D.; M eyers , D.A.; P almer, C.G.; P arks , M.; W ang, L., and Yu, P.L.: The linkage and mapping relationships of lqh. Baltimore Conference (1975), pp. 347-350. R uddle , F.H.; R icciuti, F.; M c M orris , F.A.; T ischfield , J.; C reagan, R.; D arlington, G., and C hen , T.: Somatic cell genetic assignment of peptidase C and the Rh linkage group to chromosome A-l in man. Science 176: 1429-1439 (1972). S atlin , A.; K ucherlapati, R., and R uddle , F.H.: Assignment of the gene for human uridine monophosphate kinase to chromosome 1 using somatic cell hybrid clone panels. Cytogenet. Cell Genet. 15: 146-152 (1975). Show s , T.B. and B rown , J.A.: Mapping chromosomes 1 and 2 employing a 1/2 translocation in somatic cell hybrids. Rotterdam Conference (1974), pp. 251-255. S how s , T.B. and B rown , J.A.: Localization of the uridine monophosphate kinase gene to the p21—>-pter region of chromosome 1. Baltimore Conference (1975), pp. 227-230.

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M cA lpine , P.J.; M ohandas, T .; R av, M., and H amerton, J.L.: Regional localiza­

Cook, Burgerhout Chromosome 1

73

Someren , H.; Beyersbergen van H enegouwen , H.; W esterveld , A., and Bootsma, D.: Synteny of the human loci for fumarate hydratase and UDPG

van

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4th International Workshop on Human Gene Mapping. Report of the committee on the genetic constitution of chromosome 1.

Downloaded by: King's College London 137.73.144.138 - 1/16/2019 2:28:55 AM COM MITTEE REPORTS Cytogenet. Cell Genet. 22: 61-73 (1978) Report of th...
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