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1.
A sample of the population from Central Sardinia was studied with respect to acid phosphatase (AcP) and esterase D (EsD) enzymes. The gene frequencies were: AcPA = 0.322, AcPB = 0.617, AcPC = 0.061 and EsD1 = 0.892. The results were compared with those of other Italian populations. 相似文献
2.
Red cell esterase D (EsD) phenotypes were determined in a Danish population sample of 3,116 unrelated adults by starch-gel electrophoresis. A new phenotype was discovered, which appeared to be determined by the EsD1 allele and a new allele EsDCph. The gene frequencies observed were EsD1 = 0.9007, EsD2 = 0.0992, EsDCph = 0.0001. Investigation of 1,111 mother-child pairs and 59 families with 157 offspring added further support to the genetic model of two common alleles at an autosomal locus. The applicability of the EsD polymorphism to paternity testing was investigated on 960 cases of disputed paternity. An estimate of the EsD null allele frequency (0.001) in European populations was made on the basis of observations made on 5,864 mother/child combinations and 762 matings with 1,882 offspring. The influence of this allele on the reliability of exclusions of paternity was determined. 相似文献
3.
D Ranalletta G Destro-Bisol N Fucci 《Anthropologischer Anzeiger; Bericht über die biologisch-anthropologische Literatur》1987,45(2):153-157
The distribution of EsD phenotypes in the population of Rome was investigated by cellulose-acetate electrophoresis and isoelectric-focusing. The gene frequencies were found to be: EsD1 = 0.8451, EsD2 = 0.1363, EsD5 = 0.0186. These frequencies were compared with those reported in other populations. 相似文献
4.
Bayesian approach to searching for susceptibility genes: Gc2 and EsD1 alleles and multiple sclerosis
Multiple sclerosis (MS) is one of the most common causes of neurological disability in early adulthood. The current literature is interested in identifying biological or DNA markers associated with genetic susceptibility to MS. The aim of this study is to investigate, by means of Bayesian statistical inference, whether the presence of Gc2 (Gc = group-specific component) and/or EsD1 (EsD = esterase D) alleles affects MS susceptibility. Gc and EsD are two classical genetic markers, being the first a serum protein polymorphism, the latter an isoenzyme polymorphism. The interest of the proposed statistical approach of searching for MS susceptibility genes relies on the analysis of two different functions, one function being inferred from our results on 56 unrelated patients from central Italy affected by MS, the other one from Italian and worldwide epidemiological data. The graphical analysis suggests that MS susceptibility is influenced by both Gc2 and EsD1 alleles; and EsD1 allele is more informative than Gc2. These results point out the advantages of the Bayesian approach in searching for susceptibility genes. Furthermore, the significant association between the considered alleles and the susceptibility to MS suggests possible hypotheses about the pathogenesis of the disease. 相似文献
5.
Using random population data on the ABO, MN, esterase D (EsD), glyoxalase I, complement (C3) and haptoglobin markers in the population of Madras City associations were studied between these genetic systems. Out of a total of fifteen comparisons one significant association (chi 2 = 11.0; d.f. 4; 0.05 greater than p greater than 0.02) was found between the EsD and C3 phenotypes. 相似文献
6.
We have analyzed the esterase D (EsD) polymorphism at the nucleic acid level. Two common alleles, EsD1 and EsD2, are characterized by the substitution of one amino acid (Gly-to-Glu), which is caused by the point mutation of one nucleotide (G-to-A). Individuals exhibiting the EsD1 and EsD 2 phenotypes are homozygotes for EsD 1 and EsD 2 cDNAs, respectively. Individuals showing the EsD 2-1 phenotype have two kinds of cDNAs, viz., EsD 1 and EsD 2. The point mutation difference between the cDNAs of the EsD1 and EsD2 alleles results in a different SspI digestion site. A restriction fragment length polymorphism caused by this difference with respect to the SspI digestion site makes it possible to determine the EsD phenotype using DNA samples extracted from forensic materials with no EsD enzymatic activity. 相似文献
7.
Phenotypes of human red cell esterase D (EsD) were determined in 351 unrelated adults from Serbia (Yugoslavia). The calculated allele frequencies were 0.911 for EsD1 and 0.089 for EsD2. The phenotype distribution was in good agreement with the Hardy-Weinberg equilibrium. 相似文献
8.
Purification and substrate specificity of polymorphic forms of esterase D from human erythrocytes 总被引:5,自引:0,他引:5
Esterase D (EsD), purified from human erythrocytes and tested with a variety of substrates, hydrolyzed only triacetin, tributyrin, and certain soluble aryl esters of aliphatic acids. Esters of 4-methylumbelliferone were easily the best substrates. When the three genetically different isozymes were compared, the less common forms, EsD 2 and EsD 2-1, were less stable than EsD 1. With some substrates, the Michaelis constant of the EsD 2 form differed from that of the EsD 1 form. The EsD 2-1 hybrid form was usually, but not invariably, intermediate in properties. The physiologic significance of the genetic variability of this enzyme is unknown. 相似文献
9.
用淀粉凝胶电泳法对我国汉族9个人群的红细胞酸性磷酸酶(AcP1)、酯酶D(EsD)、及6-磷酸葡萄糖酸脱氢酶(6-PGD)的遗传多态性进行了研究。研究结果表明:兰州、呼和浩特、哈尔滨、西安、郑州、成都、贵阳、漳州、梅州等9市汉族人群的AcPB1基因频率依次为0.7929、0.8167、0.7938、0.8131、0.8088、0.8005、0.7896、0.7794和0.7675;EsD1基因频率依次为0.6473、0.6148、0.6443、0.6439、0.6475、0.6305、0.6287、0.5907和0.5825;6-PGOA基因频率依次为0.8881、0.9143、0.9330、0.9318、0.8756、0.9212、0.9188、0.9461和0.9375。EsD1基因频率在中国南、北方人群间有差异,北方人群的EsD1频率高于南方人群,随着北纬纬度由高向低,汉族人群EsD1频率也随着从北向南降低。在中国汉族人群中,EsD基因及6-PGD基因分化比较显著,而AcP基因分化则不显著 相似文献
10.
Two "new" phenotypes of the esterase D system, named EsD 4-1 and EsD 4-2, were observed in a father and his daughter, respectively. An additional allele EsD4 is postulated. 相似文献
11.
Three genetic markers - group-specific component (Gc), alpha1-antitrypsin, and esterase D - were examined in a population of Eskimos from Igloolik in the eastern Canadian Arctic. Gc and esterase D were found to be polymorphic. In addition to the common Gc types, an anodal variant called Gc Igloolik was found, probably identical to previously reported Gc Eskimo. Gene frequencies were Gc1: 0.6524, Gc2: 0.3373, GcIgl: 0.0104, for 338 Eskimos. Genetic types of alpha1-antitrypsin (Pi types) were mostly M, with two MS sibs who were half Caucasian, in 170 Eskimos. Frequencies of the esterase D allele in 336 Eskimos were EsD1: 0.7083, EsD2: 0.2917. The frequencies of Gc2 and EsD2 are both higher than are found in Caucasian populations. 相似文献
12.
562 healthy blood donors and 65 families with 149 offspring were types for esterase D (EsD). The observed allele frequencies are in good agreement with those determined in other Caucasian populations. The rare variant EsD3 was found in a blood donor who transmitted it to his daughter. The observed segregation ratios in our family material showed no deviation from expectation. 相似文献
13.
Variations at the PGM1, GOTm, GOTs, and EsD loci were studied in placental samples from Northern Greece. The gene frequencies of GOTm and GOTs were found to be comparable with frequencies reported in other Caucasian populations. The frequencies of the EsD and PGMa11 alleles, however, were lower in Northern Greece than in other European populations. 相似文献
14.
S M Chahal I K Sehgal I J Bansal P Singh 《Anthropologischer Anzeiger; Bericht über die biologisch-anthropologische Literatur》1986,44(4):341-353
Data are presented on the phenotypes and gene frequencies of esterase D (EsD) polymorphism in various endogamous caste groups of Patiala and Faridkot districts of Punjab, north-west India. The frequency of the EsD2 allele in these groups varies from a minimum of 0.157 in Khatris to a maximum of 0.253 in Ramdasia Sikhs, a range quite typical of the north Indian populations. Examination of the available data on esterase D system in indigenous populations demonstrates the existence of a north-south cline in the distribution of the EsD2 allele in India. 相似文献
15.
A total of 461 individuals, belonging to some Subsaharan populations (Beti, Bateke and Babenga Pygmies of Congo; Goun and Nago of Benin; Mbugu and Sango of the Central African Republic), and a sample of 231 individuals of the population of Rome (Italy) have been typed for red cell esterase D using conventional electrophoresis and isoelectric focusing. The Subsaharan populations showed a high variability of the frequency of the EsD2 allele (0.018-0.138) and the absence of the EsD5 allele which, on the contrary, reached a polymorphic frequency (0.017) in the Italian sample. These results suggest that the EsD5 allele has a Caucasian origin. 相似文献
16.
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 总被引:2,自引:0,他引:2
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。 相似文献
17.
The genetic structure of two Chukot Evens subpopulations (314 individuals) for electrophoretic protein systems and taste sensitivity to PTC was studied. 17 of the 39 loci were polymorphic (43.59%). The following systems were completely monomorphic: diaphorase NAD H (Dia); glucose-6-phosphate dehydrogenase (G-6-PD); glutamatoxalate transaminase (GOT); carbonic anhydrase (Ca-1); catalase (Ct), lactate dehydrogenase (loci LDH-A and LDH-B); leucine aminopeptidase (Lap); malate dehydrogenase (MDH); purine nucleoside phosphorylase (PNP); superoxide phosphorylase (PNP); superoxide dismutase (SOD); phosphoglucomutase-2 (PGM2); cholinesterase (locus E1); red cell esterase (4 loci); albumin (Alb); hemoglobin (Hb A and B); ceruloplasmin (Cp); and blood, gren, using the standard method. The following systems were polymorphic: red cell acid phosphatase (AcP); phosphoglucomutase-1 (PGM1); 6-phosphogluconate dehydrogenase (PGD); glutamatepyruvate transaminase (GPT); glyoxalase-1 (GLO-1); esterase (EsD); adenilatkinase (AK); alkaline phosphatase (Pp); cholinesterase (locus E2); haptoglobin (Hp); transferrin (Tf); group-specific component (Gc) and ABO, MN, Lewis, P blood groups and taste sensitivity to PTC. The following allele frequencies for polymorphic loci have been detected: AKI = 0.994; GLO = 1I = 0.082; GPT1 = 0.653; AcPA = 0.400; AcPB = 0.599; AcPC = 0.001; PGDA = 0.944; PGM1(1) = 0.906; EsD1 = 0.897; E2+ = 0.048; HpI = 0.394; GcI = 0,919; Tfc = 0.987; r(O) = 0.669; p(A) = 0.184; q(B) = 0.146; M = 0.711; Le = 0.411; P1+ = 0.521; t = 0.295. The genetic structure of Chukot Evens population is significantly nearer to that of the other ethnic groups of the North-East, in comparison with the genetic structure of Evenks of the Middle Siberia. 相似文献
18.
十一个少数民族红细胞酸性磷酸酶、酯酶D、6-磷酸葡萄糖酸脱氢酶及谷丙转氨酶的遗传多态性 总被引:2,自引:1,他引:1
用淀粉凝胶电泳法对我国十一个少数民族红细胞酸性磷酸酶(AcP_1)、酯酶D(EsD)、6-磷酸葡萄糖酸脱氢酶(6-PGD)及谷丙转氨酶(GPT)的遗传多态性进行了研究,共调查了2272人。研究结果表明:侗、回、白、土家、苗、彝、藏、满、瑶、哈尼和布依等民族AcP_1~B基因频率依次为0.7835、0.7958、0.8137、0.7750、0.7624、0.8038、0.8075、0.8035、0.7725、0.6488和0.6896;EsD~1基因频率依次为0.6418、0.7315、0.6005、0.6025、0.6411、0.6411、0.6558、0.6305、0.6020、0.6023和0.6368;6-PGD~A基因频率依次为0.9279、0.9381、0.9387、0.9150、0.9356、0.9014、0.7764.0.8818、0.9851.0.9233和0.9410;GPT~1基因频率依次为0.4075、0.5367、0.5049、0.4824、0.5322、0.6106、0.6313、0.6400、0.3985、0.4930和0.3976。并对发现的变异型进行了讨论。 相似文献
19.
L J Donald 《Human heredity》1976,26(3):234-238
Phenotype distributions and allele frequencies of adenylate kinase and esterase D were determined for four Canadian populations. In two population samples from south-western Ontario, allele frequencies at both loci were similar to those of European populations. In two northern, indigenous populations, the allele AK2 was not detected. There was variation at the EsD locus with EsD2 having a frequency of 0.176 in an Indian population, and 0.156 in an Eskimo population. 相似文献
20.
S. Bissbort H. W. Hitzeroth D. P. du Wentzel C. W. Van den Berg H. Senff T. F. Wienker K. Bender 《Human genetics》1988,79(3):289-290
Summary We describe a new rare allele for esterase D (EsD) occurring in a Portuguese family with retinoblastoma in two generations. 相似文献