© 1990 S. Karger AC,. Basel 0001-5652/90/0405-0308 $ 2.75/0
Hum Hered 1990;40:308-310
Red-Cell Enzyme Polymorphisms in the Reggio Calabria Province (Italy) O. Rickardsa, M. Tarlaglia ', G. Biondih, G. Scanot , H. Wallerc, G.F. De Stefano'' ‘ Dipartimento di Biologia, Universita ‘Tor Vergata', and h Dipartimento di Biologia Animale e deU’Uomo, Universita ‘La Sapienza', Roma, Italia; c Department of Human Biology/Physical Anthropology, University of Bremen, FRG
Key Words. Red blood cell polymorphisms • Italian population Abstract. Acid phosphatase (ACPI), adenosine deaminase (ADA), esterase D (ESD), glyoxalase 1 (GLOl), phosphogluconate dehydrogenase (PGD) and phosphoglucomutase 1 and 2 (PGM1 and PGM2) polymorphisms have been studied in the Reggio Cala bria province (Southern Italy). The ACPI*A allele and ADA, GLOl, PGD and PGM1 systems have frequencies similar to those reported for Sicily and Southern Italy.
A wide survey has started since the early 1980s in the Southern Italian regions and islands, as a contribution to the knowledge on geographic variability of gene frequencies in Italy [De Stefano et al., 1987; Rickards et al., 1983, 1984, 1988a, b; Walter et al., 1986]. In this paper, the results of a study on a population sam ple from the Reggio Calabria province are reported. The polymorphisms analyzed were: acid phosphatase (ACPI), adenosine deaminase (ADA), esterase D (ESD), gly oxalase 1 (GLOl), phosphogluconate de hydrogenase (PGD) and phosphoglucomutase 1 and 2 (PGM 1 and PGM2).
Materials and Methods 204 unrelated apparently healthy adults of both sexes, with both parents born in the Reggio Calabria province, were tested. Blood specimens were col lected by venipuncture into sterile heparinized tubes, kept at 4-6 °C until they were sent to Rome within 3 days. Red cells were stored at -20 °C pending analy sis. Electrophoretic separations were performed on cellulose acetate strips (Ceilogel, Chemetron Labometrics, Milan, Italy) according to Meera Khan and Doppert[1976] for GLOl and Harris and Hopkinson [1976] (modified by Chemetron Labometrics) for the other alloenzymes.
Results and Discussion Table 1 shows the distributions of the phenotype and gene frequencies of the
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Introduction
Red-Cell Enzyme Polymorphisms in the Reggio Calabria Province (Italy)
309
Table 1. Phenotype and gene frequency distribution in the Reggio Calabria province Frequency observed ACPI A AB B BC C CA
15 75 86 18 0 9
Total
203
ADA 1 2-1 2
161 38 4
Total
203
ESD 1 2-1 2
152 46 6
Total
204
GLOl 1 2-1 2
24 84 96
Total
204
PGD A AC C
183 19 1
Total
203
PGM 1 1 2-1 2
108 73 18
Total
199
X2
d.f.
Alleles
16.03 74.50 86.56 17.50 0.88 7.53
0.13
2*
ACPI*A 0.281 ±0.022 ACPI *B 0.653 ±0.024 ACPI*C 0.066 ±0.012
159.72 40.69 2.59
0.96
I
ADA*I 0.887 A DA *2 0.113 ± 0.016
150.18 49.71 4.11
1.17
1
ESD*1 0.858 ESD*2 0.142 ±0.017
21.42 89.36 93.22
0.71
1
GLOI*l 0.324 ±0.023 GLOl *2 0.676
expected
182.44 20.01 0.55
104.89 79.17 14.94
* C and CA phenotypes were pooled.
PGD*A 0.948 PGD*C 0.052 ±0.011
1.20
1
PGM 1*1 0.726 PGM1*2 0.274 ±0.022
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Phenotypes
310
Rickards/Tartagiia/Biondi/Scano/Walter/De Stefano
Acknowledgments We want to thank the Servizio Sanitario of the FF.SS. for its technical help in collecting samples. This work was supported in part by CNR (grant No. 85.00452.04).
References Biondi, G.; Calabró, V.; Colonna-Romano, S.; Giangregorio, M.; Malaspina, P.; Petrucci, R.; Santolamazza, C.; Santolamazza, P.; Tramon tano, E.; Battistuzzi, G.: Common and rare ge netic variants of human red blood cell enzymes in Italy. Anthrop. Anz. 47: 15 5 -174 (1989). De Stefano, G.F.: Rickards, O.; Biondi, G.; Steckel, A.; Dannewitz, A.; Walter, H.: Genetic study of the haptoglobin polymorphism in Italy. I. Bari and Genoa provinces. Gene Geogr. I: 135-142 (1987).
Harris, H.; Hopkinson, D.A.: Handbook of enzyme electrophoresis in human genetics (North Hol land, Amsterdam 1976). Meera Khan. P.; Doppert, B.A.: Rapid detection of glyoxalase I (GLO) on cellulose acetate and the distribution of GLO variants in a Dutch popula tion. Hum. Genet. 34: 53-56 (1976). Rickards, O.; Santolamazza, P.; De Stefano, G.F.: Characterization of a rare allele of the phosphoglucomutase locus 1 (PGM I*8) in an Italian fam ily by isoelectric focusing. Anthrop. Anz. 41: 217-220(1983). Rickards, O.; Capucci, E.; Falcone, G.; Fuciarelli, M.; Romagnoli, S.: Some erythrocyte polymor phisms in Bari and its district (South Italy). An throp. Anz. 42: 299-306(1984). Rickards, O.; Biondi, G.: Dc Stefano, G.F.; Battis tuzzi, G.: Distribution of genetically determined deficient variants of glucose-6-phosphate dehy drogenase (G6PD) in Southern Italy; in Mayr, Advances in forensic haemogenetics 2, pp. 570-573 (Springer, Berlin 1988a). Rickards, O.; Biondi, G.; Fuciarelli, M.; Capucci, E.; Walter, H.; De Stefano, G.F.: Red cell polymor phisms in Sardinia. Hum. Hered. 38: 332-336 (1988b). Walter, H.; Kannapinn, G.; Dannewitz, A.; Rick ards, O.; De Stefano, G.F.: On the variability of GC subtypes in Italy. Hum. Hered. 36: 50-53 (1986).
Olga Rickards Dipartimento di Biología Universita ‘Tor Vergata' Via E. Carnevale 1-00173 Rome (Italy)
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polymorphic markers (PGM2 locus was found to be monomorphic). All the dis tributions were in agreement with the Hardy-Weinberg equilibrium. When comparing these results with those so far published for Italy, it is ob served that the ACPI*A allele and ADA, GLOl, PGD and PGM1 systems have fre quencies similar to those reported for Sicily and Southern Italy [Biondi et al., 1989],
Hum Hered 1990;40:308-310
Red-Cell Enzyme Polymorphisms in the Reggio Calabria Province (Italy) O. Rickardsa, M. Tarlaglia ', G. Biondih, G. Scanot , H. Wallerc, G.F. De Stefano'' ‘ Dipartimento di Biologia, Universita ‘Tor Vergata', and h Dipartimento di Biologia Animale e deU’Uomo, Universita ‘La Sapienza', Roma, Italia; c Department of Human Biology/Physical Anthropology, University of Bremen, FRG
Key Words. Red blood cell polymorphisms • Italian population Abstract. Acid phosphatase (ACPI), adenosine deaminase (ADA), esterase D (ESD), glyoxalase 1 (GLOl), phosphogluconate dehydrogenase (PGD) and phosphoglucomutase 1 and 2 (PGM1 and PGM2) polymorphisms have been studied in the Reggio Cala bria province (Southern Italy). The ACPI*A allele and ADA, GLOl, PGD and PGM1 systems have frequencies similar to those reported for Sicily and Southern Italy.
A wide survey has started since the early 1980s in the Southern Italian regions and islands, as a contribution to the knowledge on geographic variability of gene frequencies in Italy [De Stefano et al., 1987; Rickards et al., 1983, 1984, 1988a, b; Walter et al., 1986]. In this paper, the results of a study on a population sam ple from the Reggio Calabria province are reported. The polymorphisms analyzed were: acid phosphatase (ACPI), adenosine deaminase (ADA), esterase D (ESD), gly oxalase 1 (GLOl), phosphogluconate de hydrogenase (PGD) and phosphoglucomutase 1 and 2 (PGM 1 and PGM2).
Materials and Methods 204 unrelated apparently healthy adults of both sexes, with both parents born in the Reggio Calabria province, were tested. Blood specimens were col lected by venipuncture into sterile heparinized tubes, kept at 4-6 °C until they were sent to Rome within 3 days. Red cells were stored at -20 °C pending analy sis. Electrophoretic separations were performed on cellulose acetate strips (Ceilogel, Chemetron Labometrics, Milan, Italy) according to Meera Khan and Doppert[1976] for GLOl and Harris and Hopkinson [1976] (modified by Chemetron Labometrics) for the other alloenzymes.
Results and Discussion Table 1 shows the distributions of the phenotype and gene frequencies of the
Downloaded by: Univ. of California Santa Barbara 128.111.121.42 - 3/19/2018 9:57:34 AM
Introduction
Red-Cell Enzyme Polymorphisms in the Reggio Calabria Province (Italy)
309
Table 1. Phenotype and gene frequency distribution in the Reggio Calabria province Frequency observed ACPI A AB B BC C CA
15 75 86 18 0 9
Total
203
ADA 1 2-1 2
161 38 4
Total
203
ESD 1 2-1 2
152 46 6
Total
204
GLOl 1 2-1 2
24 84 96
Total
204
PGD A AC C
183 19 1
Total
203
PGM 1 1 2-1 2
108 73 18
Total
199
X2
d.f.
Alleles
16.03 74.50 86.56 17.50 0.88 7.53
0.13
2*
ACPI*A 0.281 ±0.022 ACPI *B 0.653 ±0.024 ACPI*C 0.066 ±0.012
159.72 40.69 2.59
0.96
I
ADA*I 0.887 A DA *2 0.113 ± 0.016
150.18 49.71 4.11
1.17
1
ESD*1 0.858 ESD*2 0.142 ±0.017
21.42 89.36 93.22
0.71
1
GLOI*l 0.324 ±0.023 GLOl *2 0.676
expected
182.44 20.01 0.55
104.89 79.17 14.94
* C and CA phenotypes were pooled.
PGD*A 0.948 PGD*C 0.052 ±0.011
1.20
1
PGM 1*1 0.726 PGM1*2 0.274 ±0.022
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Phenotypes
310
Rickards/Tartagiia/Biondi/Scano/Walter/De Stefano
Acknowledgments We want to thank the Servizio Sanitario of the FF.SS. for its technical help in collecting samples. This work was supported in part by CNR (grant No. 85.00452.04).
References Biondi, G.; Calabró, V.; Colonna-Romano, S.; Giangregorio, M.; Malaspina, P.; Petrucci, R.; Santolamazza, C.; Santolamazza, P.; Tramon tano, E.; Battistuzzi, G.: Common and rare ge netic variants of human red blood cell enzymes in Italy. Anthrop. Anz. 47: 15 5 -174 (1989). De Stefano, G.F.: Rickards, O.; Biondi, G.; Steckel, A.; Dannewitz, A.; Walter, H.: Genetic study of the haptoglobin polymorphism in Italy. I. Bari and Genoa provinces. Gene Geogr. I: 135-142 (1987).
Harris, H.; Hopkinson, D.A.: Handbook of enzyme electrophoresis in human genetics (North Hol land, Amsterdam 1976). Meera Khan. P.; Doppert, B.A.: Rapid detection of glyoxalase I (GLO) on cellulose acetate and the distribution of GLO variants in a Dutch popula tion. Hum. Genet. 34: 53-56 (1976). Rickards, O.; Santolamazza, P.; De Stefano, G.F.: Characterization of a rare allele of the phosphoglucomutase locus 1 (PGM I*8) in an Italian fam ily by isoelectric focusing. Anthrop. Anz. 41: 217-220(1983). Rickards, O.; Capucci, E.; Falcone, G.; Fuciarelli, M.; Romagnoli, S.: Some erythrocyte polymor phisms in Bari and its district (South Italy). An throp. Anz. 42: 299-306(1984). Rickards, O.; Biondi, G.: Dc Stefano, G.F.; Battis tuzzi, G.: Distribution of genetically determined deficient variants of glucose-6-phosphate dehy drogenase (G6PD) in Southern Italy; in Mayr, Advances in forensic haemogenetics 2, pp. 570-573 (Springer, Berlin 1988a). Rickards, O.; Biondi, G.; Fuciarelli, M.; Capucci, E.; Walter, H.; De Stefano, G.F.: Red cell polymor phisms in Sardinia. Hum. Hered. 38: 332-336 (1988b). Walter, H.; Kannapinn, G.; Dannewitz, A.; Rick ards, O.; De Stefano, G.F.: On the variability of GC subtypes in Italy. Hum. Hered. 36: 50-53 (1986).
Olga Rickards Dipartimento di Biología Universita ‘Tor Vergata' Via E. Carnevale 1-00173 Rome (Italy)
Downloaded by: Univ. of California Santa Barbara 128.111.121.42 - 3/19/2018 9:57:34 AM
polymorphic markers (PGM2 locus was found to be monomorphic). All the dis tributions were in agreement with the Hardy-Weinberg equilibrium. When comparing these results with those so far published for Italy, it is ob served that the ACPI*A allele and ADA, GLOl, PGD and PGM1 systems have fre quencies similar to those reported for Sicily and Southern Italy [Biondi et al., 1989],
