Phenotypic distributions of red cell glutamate-pyruvate transaminase (E.C.2.6.1.2) isoenzymes in British and New York populations.

1444 persons of British nationality living in London, and 294 Caucasians, 258 Negroes, 310 Hispanic persons, and 151 Chinese persons living in New York were tested for glutamate-pyruvate transaminase phenotype. The Gpt1 frequency in the British population was found to be 0.5277, the Gpt2 frequency was 0.4716, and two GPT 3-2 persons were found. The Gpt1 frequencies in the New York population were: 0.4834 in Chinese; 0.5226 in Hispanic persons; 0.8101 in Negroes; and 0.5306 in Caucasians. Two Caucasians possessed the GPT 3-2 phenotype.     

Phophoglucomutase first locus polymorphism as revealed by isoelectric focusing in Southern Africa

Eleven Southern African populations (representing European, Asian and Negroid populations) have been typed for the first locus phosphoglucomutase (PGM1) using isoelectric focusing (pH range 5.0-8.0) in acrylamide gels. The gene frequencies of the four common alleles at this locus in these populations were compared to those found previously in European and Negroid populations. Marked differences in gene frequencies were observed: Negroes have a lower PGM1(2-) compared with Caucasoids due to a lower PGM1(2-) frequency, Indians a relatively high PGM1(2) due to a higher frequency of the PGM1(2+) allele. The Afrikaans and Ashkenazim do not differ appreciably from their European counterparts. The appearances of the rarer PGM1(6) and PGM1(7) alleles on isoelectric focusing are described and some kinetic properties examined. The PGM2(2-1), or 'Atkinson' phenotype, can also be detected with this technique.     

Biodemoraphy and genetics of the Berba of Benin

Genetic structure of the Berba of Benin was studied on the basis of biodemographic data and ABO, RH, MNS, KEL, JK, FY, ACP1, ADA, AK1, CA2, ESD, GLO1, G6PD, PGD, PGM1 (subtypes and thermostability), PGM2, PGP, SODA, HBα, HBβ, HBδ, BF, C3, and Hp gene frequencies. Comparisons were carried out with other populations of Benin and of sub-Sahara Africa. Correspondence analysis revealed genetic differentiation among the three main groups of populations who inhabit sub-Saharan Africa: Bushmen-Hottentots, Pygmies, and Negroes. The genetic differentiation of the Negroes in relation to their linguistic affiliation and geographic localization was evident. The first group included the populations belonging to the Bantoid subfamily of the Nigritic linguistic stock living in southern Africa; in the second subcluster the populations of central-eastern Africa were localized, and the third subcluster included the populations living in the West. © 1996 Wiley-Liss, Inc.     

Variation of several erythrocyte enzymes in the Dayaks of Sarawak.

The Land and Sea Dayaks of Sarawak were surveyed for several erythrocyte enzymes. The gene frequency of 6PGDC in 132 Land Dayaks and 127 Sea Dayaks were 0.045 and 0.047, respectively. The gene frequency of PGM1-1 IN 285 Land Dayks and 240 Sea Dayaks were 0.716 and 0.779, respectively. The ADA2 gene frequency in 283 Land Dayaks and 188 Sea Dayaks were 0.154 and 0.090. ADA 5-1 was found once in the Land Dayaks and once in the Sea Dayaks. AK 2-1 was found once in 221 Sea Dayaks but not in any of 270 Land Dayaks. No PHI, LDH or CA variants were found among the Land or Sea Dayaks.     

Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: predictions from a model based on national, racial, and ethnic group composition in central Alabama

There is interest in general population screening for hemochromatosis and other primary iron overload disorders, although not all persons are at equal risk. We developed a model to estimate the numbers of persons in national, racial, or ethnic population subgroups in Jefferson County, Alabama, who would be detected using transferrin saturation (phenotype) or HFE mutation analysis (genotype) screening. Approximately 62% are Caucasians, 37% are African Americans, and the remainder are Hispanics, Asians, or Native Americans. The predicted phenotype frequencies are greatest in a Caucasian subgroup, ethnicity unspecified, which consists predominantly of persons of Scotch and Irish descent (0.0065 men, 0.0046 women), and in African Americans (0.0089 men, 0.0085 women). Frequencies of the HFE genotype C282Y/C282Y > or = 0.0001 are predicted to occur only among Caucasians; the greatest frequency (0.0080) was predicted to occur in the ethnicity-unspecified Caucasian population. C282Y/C282Y frequency estimates were lower in Italian, Greek, and Jewish subgroups. There is excellent agreement in the numbers of the ethnicity-unspecified Caucasians who would be detected using phenotype and genotype criteria. Our model also indicates that phenotyping would identify more persons with primary iron overload than would genotyping in our Italian Caucasian, Hispanic, and African American subgroups. This is consistent with previous observations that indicate that primary iron overload disorders in persons of southern Italian descent and African Americans are largely attributable to non-HFE alleles. Because the proportions of population subgroups and their genetic constitution may differ significantly in other geographic regions, we suggest that models similar to the present one be constructed to predict optimal screening strategies for primary iron overload disorders.     

DNA polymorphic patterns and haplotype arrangements of the apo A-1, apo C-III,apo A-IV gene cluster in different ethnic groups

Summary The allelic frequency of five different restriction fragment length polymorphisms (RFLPs) in the A-1, C-III, A-IV gene region has been determined in Caucasians, Negroes, Indian Asians, and Japanese. The polymorphic sites are with Taq-1 at the 5 end of the A-1 gene, with Msp-1 in the third intron of the A-1 gene, with Pst-1 in the intergenic sequence between the A-1 and C-III genes, with Sst-1 in the 3 non-coding region of the C-III gene, and with Pvu-II in the third intron of the C-III gene. The alleles identified by three of the RFLPs showed large differences in frequency amongst the races, especially between Caucasians and non-Caucasians. Alleles of the Msp-1 polymorphism and Sst-1 polymorphism, which were rare in Caucasians (frequencies 0.03 and 0.01), were more common in Japanese (frequencies 0.37 and 0.35), Indian Asians (frequencies 0.37 and 0.26), and Negroes (frequencies 0.31 and 0.31). In contrast with a Pvu-II polymorphism one allele was rare in Japanese and in Indian Asians (frequency 0.01) but more common in Caucasians (frequency 0.11). Linkage disequilibrium was evident between some of the alleles and a total of seven haplotypes were identified among the different races.     

Biochemical variation in the Sunni Muslims of Pulwama district, Jammu and Kashmir

Baseline data are presented on phenotype and gene frequency distributions of nine red-cell enzyme systems (ADA, AK, EsD, GLO I, PGM1, AP, GPI, PGM2, SOD) in the Sunni Muslims of Kashmir valley in the northernmost Indian border state of Jammu and Kashmir.     

中国20个民族中PGM_1及其亚型EsD、GLO1、AK、ADA和6-PGD酶型分布调查

调查了汉族、鄂伦春、赫哲、朝鲜、蒙古、羌、土家、苗、侗、畲、壮、纳西、傈僳、白、彝、景颇、哈尼、傣、维吾尔和塔吉克等20个民族的PGM_1及其亚型,EsD、GLO_1、AK、ADA和6-PGD等酶型的分布及基因频率。PGM_1及其亚型、EsD和GLO_1在中国各民族中是分布较好的,个人识别能力较高的酶。有12个民族查出有PQM_1~6基因,壮族的频率最高,PGM_1 6-1表型达4.15％。对在4174份血样中所检出的带有PGM_1~6基因的68份血样做亚型分析,在凝胶上PGM_1~6谱带均在同一位置上。EsD_1基因频率的总趋向是北方各民族高于南方。哈尼、傈僳、傣、纳西、畲、壮、侗和苗等民族EsD2-2表型达15％以上,哈尼族高达32.4％。GLO1~1基因频率塔吉克和维吾尔族为0.2927和0.2112,羌族为0.0583,其它各族在0.0714—0.1527。各民族AK~1、ADA和6-PGD~(?)基因频率均甚高。     

Phosphoglucomutase-1 polymorphism among Chinese in Taiwan.

Phosphoglucomutase-1 (PGM1) phenotyping of 1,128 Chinese blood donors was performed by thin-layer isoelectric focusing on agarose. The PGM1 gene frequencies were: 1A, 0.6005; 1B, 0.1500; 2A, 0.1510; 2B, 0.0973, and rare variants, 0.0058. The rare variants found in this series were PGM1 W21, W2, W3, W6 and W9 (or W10) with PGM1 W21 being the most common variant among Chinese with a phenotype frequency of 0.8%.     

Phosphoglucomutase phenotyping among Chinese in Taiwan.

Phosphoglucomutase 1 (PGM1) phenotyping was performed in 1,128 Chinese blood donors by thin-layer isoelectric focusing on agarose. The PGM1 gene frequencies were as follows: 1A, 0.6005; 1B, 0.1500; 2A, 0.1510, 2B, 0.0973; variants, 0.0058, with W21, 0.0040. The variants found in this series were PGM1 W21, W2, W3, W6 and W9 (or W10) with PGM1 W21 being the most common variant among Chinese, having a phenotype frequency of 0.8%.     

Population genetics of red cell enzymes in Pygmies: a conclusive account

In the course of a long-term research project, three groups of Pygmies and some non-Pygmy Central Africans have been examined for the following red cell enzyme markers: ACP, PGM1, PGM2, PEPA, PEPB, and PEPC, AK, ADA, and PHI. Several other red cell enzymes (ESD, CA1 and CA2, GPT, GLO, and DIA1) have been studied in only some of these groups. This paper reports all the information we obtained, including what we have already published. The following conclusions can be drawn from the whole body of data: (1) Gene patterns of Pygmies are those typical of other Africans (e.g.: lack of ADA2 and AK2 genes, low GPT2 gene frequency, polymorphism of the CA2 locus, and presence at polymorphic frequencies of PEPA2 allele. (2) Superimposed on this African genetic makeup, a number of Pygmy characters were identified, namely, a private polymorphism for the PGM26 Pygmy allele and possibly one for the PEPC2 allele, and particularly high ACPR and low PGM12 gene frequencies. (3) Some markers, especially PGM1 and ACP, turned out also to discriminate efficiently among different groups of Pygmies.     

Subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in some populations of Rwanda: description of variant phenotypes, "haplotype" frequencies,and linkage disequilibrium data.

Some populations of Rwanda (South Twa Pygmies, Hutu, and Tutsi) have been analyzed by acid starch gel electrophoresis for the subtyping of PGM1 polymorphism. The new polymorphic third PGM11 allele, the PGM1(1Twa), which we recently detected in Twa Pygmies from North Rwanda, has not been found in this survey, whereas the rare PGM1(6) allele attains subpolymorphic frequencies in all groups. Comparison between the various populations of Rwanda shows that they differ significantly from each other with the exception of South Twa Pygmies and Tutsi. A relatively low frequency (9.6%) of the PGM1(2S) allele appears to be typical of North Twa Pygmies; a low frequency of PGM1(2F) (1.2%-3.6%) has been found in all these groups but not in the Hutu (6.4%); and a particularly high incidence of the PGM1(1F) allele (the highest so far reported) has been observed in the South Twa Pygmies (20%) and in the Tutsi (18%). The PGM1(1Twa) and PGM1(6) enzymes, which in acid starch gel are not distinguishable, can be clearly differentiated by isoelectric focusing. In addition, the same technique has shown that the rare PGM1(7) allele observed in one Hutu is different from that found at polymorphic frequency in the Japanese and from a rare PGM1(7) allele found in Germany. On the very likely hypothesis that the PGM1(1S), PGM1(1F), PGM1(2S), and PGM1(2F) result from variations at two different polymorphic sites, 1/2 and F/S, within the PGM1 structural gene, all the available population data have been analyzed to investigate whether preferential combinations (haplotypes) were identifiable. Whereas Caucasians show a prevalence of 2F and 1S combination with an 8.02% mean value of linkage disequilibrium expressed as % Dmax, from the very few and scattered African data, it is impossible to draw any inference at present.     

Blood genetic markers in the Chinese of two eastern provinces

A total of 205 Han Chinese from two eastern provinces (155 from Fujien and 50 from Hopeh) were tested for the distribution of six blood groups--A1A2BO, MN, Rhesus (CcDEe), Lewisa, Kell (Kk) and Fya--four serum proteins--albumin and haptoglobin types; transferrin and group-specific component subtypes--haemoglobin, and twelve red cell enzyme systems--glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, lactate and malate dehydrogenases; acid phosphatase, esterate-D, glyoxalase I, adenylate kinase, glucose-phosphate isomerase, phosphoglucomutase (locus 2), and superoxide dismutase types; and phosphoglucomutase (locus 1) subtypes. The frequencies of blood groups were more or less within the reported frequencies in the Chinese. However the frequency of le was much lower in the present series. The Chinese are characterized by low p1, Ro, k, le, and a high Fya in general. P2 was lacking in the Chinese. There were some differences in the blood group frequencies in the two provinces. The frequencies of Hp alleles; Tf and Gc subtypes show characteristic mongoloid features with high Hp1, TfD, and GcIF. The frequency of TFC2 was higher in the Fujien province than that in Hopeh. At the hemoglobin locus only one Hb AD was detected, while the frequency of the beta-thalassemia trait was 0.03. No red cell G6PD deficiency or variant was detected. The distribution of red cell enzymes showed Mongoloid characteristics with low PGDC, AK2, ESD1, GLO1, and higher pa. PGM1 subtypes also had Mongoloid characteristics with lower PGM2+ and higher PGM2-. The phenotypic distribution of all the fifteen polymorphic loci was at Hardy-Weinberg equilibrium in both the Chinese populations.     

An analysis of red cell enzymatic markers in the province of Bologna (Italy).

About 280 unrelated individuals living in the province of Bologna (Northern Italy) have been studied for the following red cell enzymatic markers: phosphoglucomutase (PGM), adenylate kinase (AK), adenosine deaminase (ADA) and phosphohexose isomerase (PHI). 116 subjects from the same sample have also been analysed for red cell acid phosphatase (ACP). The observed gene frequencies are PGM21 = 0.280; AK2 = 0.030; ADA2 = 0.091; ACPa = 0.297; ACPb = 0.647; ACPc = 0.056. In the PHI system two individuals with the variant PHI 3-1 phenotype have been found.     

Polymorphism of red cell phosphoglucomutase, adenylate kinase and adenosine deaminase in a Polish population.

Genetic variants of PGM1, AK and ADA were studied in a sample of unrelated individuals from the Polish population. The gene frequencies observed are: PGM1/1: 0.715, AK1: 0.962 AND ADA1: 0.940.     

A genetic study of two French Guiana Amerindian populations

Two Amerindian populations of French Guiana were investigated for plasma proteins and red-cell enzymes. In the Wayampi tribe, rare variants were identified in 4 systems. The corresponding alleles are designated AK1 3 Wayampi, PGM1 (4/10) Wayampi, PGM2 6 Wayampi, and TfD. In the Emerillon tribe, a variant allele of PGM2, designated PGM2 6 Emerillon, was identified. For three of the systems, PGM1, PGM2, Tf, similar isozymes have been described in other Amerindian populations. These findings suggest that the corresponding alleles may have the same origin.     

AK, PGM1 and 6PGD polymorphisms in Central Sardinia

Adenylate kinase (AK), phosphoglucomutase (PGM1) and 6-phosphogluconate dehydrogenase (6PGD) polymorphisms were investigated in a sample of individuals from Central Sardinia. The gene frequencies were: AK1 = 0.973, PGM1(1) = 0.842 and PGDA = 0.969. The frequencies were compared with those of other Italian populations.     

A genetic study among the Lepchas of the Darjeeling area of eastern India

A total of 215 Lepchas (75 Buddhists and 140 Christians) living in the Kalimpong subdivision, Darjeeling district, West Bengal, India, were investigated for the distribution of haemoglobin, serum proteins and red cell enzymes. The gene frequencies were as follows: HbE = 0.02; Hp1 = 0.18; TfB = 0.007; TfDChi = 0.005; Gc2 = 0.22; pa = 0.18; pc = 0.03; PGM2(1) = 0.18; PGM6(1) = 0.002; PGDc = 0.17; AK2 = 0.02; GLO1 = 0.21. The most striking features were the complete lack of G6PD deficiency and very high frequency of PGDC. The remaining loci (serum albumin, lactate dehydrogenase, malate dehydrogenase and glucose-6-phosphate dehydrogenase, phosphohexose isomerase and superoxide dismutase) were monomorphic. The gene frequencies were similar in the Buddhist and Christian Lepchas. The observed average heterozygosity (9 loci) was 0.20 in the entire sample.     

Polydactyly in the American Indian.

Polydactyly has an incidence in the American Indian twice that of Caucasians. A minimum estimate of this incidence is 2.40 per 1,000 live births. Preaxial type 1 has an incidence three to four times that reported for Caucasians or Negroes. The overall sex ratio in Indians is distorted with more males affected than females. The preaxial type 1 anomaly has a strong predilection for the hands and always is unilateral in contrast to postaxial type B where more than one-half are bilateral. The evidence to date, consisting of varying incidences of specific types of polydactyly among American whites, Negroes, and Indians in varying enviroments, suggests different gene-frequencies for polydactyly in each population. The incidence in Indians with 50% Caucasian admixture suggests that the factors controlling polydactyly are in large part genetically determined. Family studies and twin studies reported elsewhere offer no clear-cut genetic model which explains the highly variable gene frequencies.     

PGM1 and Gc subtype gene frequencies in a California Hispanic population.

The gene frequencies of the subtypes of the Gc (group-specific component) protein and PGM1 (phosphoglucomutase) enzyme systems have been determined by means of isoelectric focusing for a California Hispanic population (no. = 404). The Gc subtyping, done by immunofixation on a polyacrylamide gel, gave the following results: 1s = 0.491; 1f = 0.288; 2 = 0.218; variant = 0.0025. The PGM subtyping, done on agarose gel, gave results as follows: 1+ = 0.502; 1- = 0.266; 2+ = 0.128; 2- = 0.104. Because the gene frequencies for Hispanics in both these systems are relatively evenly balanced, the systems are of great value in Hispanic paternity investigations. The average power of exclusion is calculated to be 34.4% (Gc subtyping) and 39.8% (PGM1 subtyping).