摘要:

DNAs from 122 individuals representing 5 ethnic groups (Black, Chinese, Japanese, Caucasian and Melanesian) were analyzed for restriction fragment length polymorphisms (RFLPs) with a hypervariable repeated sequence located uniquely on chromosome 1 (hMF No.l; is a component of the D1Z2 locus). When human genomic DNA is digested with a variety of enzymes (TaqI, EcoRI, SinI, PstI, Haelll) the hMF No.l probe reveals multiple RFLPs. Ethnic group differences were found in the frequencies of specific EcoRI bands. The most striking ethnic group variation was the presence of a unique fragment amongst the Japanese.

ISSN:0001-5652    

DOI:10.1159/000153895

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Previous studies in Madang have demarcated 2 groups of women, one with high spleen rates (HS group) and the other with low spleen rates (LS group). An association between glucose 6-phosphate dehydrogenase (G6PD) deficiency and low spleen rates was investigated in 196 HS and 106 LS group men. Prevalence was 12.2 and 9.4%, respectively. Parasite and spleen rates were lower in deficients in the HS group. Differences in prevalence between HS group villages were observed which may be related to the interaction of G6PD deficiency with other haemoglobinopathies such as ovalocytosis. An effect on malaria endemicity at the village level may only occur when G6PD deficiency is a predominant trait.

ISSN:0001-5652    

DOI:10.1159/000153896

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

We have tested the hypothesis that the protease inhibitor phenotypes MZ and MS are disadvantageous and reduce survival by comparing the prevalence of these phenotypes in a group of 707 very old people (hospital patients) with the prevalences reported in younger populations of blood donors. The MS and MZ phenotypes appear to be no less common among those who have survived to old age, but a highly significant difference was found in the occurrence of the M subtypes. The Ml type was more common in the elderly, and the M heterozygotes were less common than would be predicted from the reported incidence in younger groups and from the Hardy-Weinberg equilibrium. This discrepancy appeared to be smaller in subjects of Mediterranean origin than in those of British or Irish genetic background.

ISSN:0001-5652    

DOI:10.1159/000153897

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

All known surviving haemophiliacs A and B and their relatives were reexa-mined by laboratory and clinical methods and evaluated by a genetic-epidemiologic approach in 4 north-western counties of Hungary. The prevalence of haemophilia A and B patients born in the fifties was 2.73 and 0.25 per 10,000 persons, respectively. The reproductive fitness was found to be 0.3 in haemophilia A, and 0.8 in haemophilia B patients. The mutation rates calculated by the indirect method were 6.3 × 10-5 for haemophilia A and 0.2 × 10–5 for haemophili

ISSN:0001-5652    

DOI:10.1159/000153898

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Group-specific component (GC) subtyping was performed by isoelectric focusing in 318 Spanish drug users at risk for infection or infected by HIV (85 HIV se-ronegatives, 111 HIV seropositives without symptoms, 89 seropositives with symptoms, 33 AIDS patients) and 187 healthy individuals. There was no significant association between GC subtypes and susceptibility to HIV infection and/or progression to AIDS.

ISSN:0001-5652    

DOI:10.1159/000153900

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Digestion of human genomic DNA with the restriction enzyme StuI revealed a 2-allele polymorphism with a human HepG2 glucose transporter probe. Bands of 3.2 kilobases (kb; S1 allele) and 2.6 kb (S2 allele) were observed. The genotype frequencies were investigated in 2 non-insulin-dependent diabetic populations. The genotype frequencies of S1 S1, S1 S2 and S2S2 were 6, 42 and 52% among Caucasian diabetic subjects (n = 48), and 11, 38 and 51 % in 47 controls, respectively. In West Indian diabetic patients (n = 48), the genotype frequencies were 17, 54 and 29%, and for 36 controls they were 25, 33 and 42%, respectively. The polymorphism information content of this restriction fragment length polymorphism (RFLP) is 0.32 in Caucasians and 0.37 in West Indians, respectively. There was no significant difference of allele or genotype frequencies between the diabetic patients and non-diabetic controls in either group. Haplo-type analysis of the StuI and Xbal RFLPs showed that there was also no significant difference in the frequencies of the four different haplotypes S1X1, S1X2, S2X1 and S2X2 between the patients and controls. However, there was a difference for the frequency of the SI allele between Caucasians (controls 30%, patients 27%) and West Indians (controls 42%, patients 44%). There was also a significant difference in the frequency of haplotype S2X2 between these two racial groups (controls 48%, cases 51 % for Caucasians, and controls 33%, cases 22% for West Indians).

ISSN:0001-5652    

DOI:10.1159/000153901

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Subunit A of coagulation factor XIII (F13A) and α-L-fucosidase (FUCAl) polymorphisms were studied in unrelated healthy blood donors from northern Portugal. The gene frequencies found were: F13A*2 = 0.241 and FUCA1*2 = 0.308. Segregation analysis in mother/child pairs and nuclear families confirmed the previously described modes of inheritance for F13A and FUCAl, and no evidence for silent genes was found

ISSN:0001-5652    

DOI:10.1159/000153902

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

The genetic polymorphism of α2-HS-glycoprotein (AHSG) was studied in the Kyushu district of Japan using polyacrylamide gel isoelectric focusing, followed by immunoblotting. Three new rare variants were observed and designated AHSG*16, AHSG*17 and AHSG*18, tentatively. The frequencies of the polymorphic genes AHSG*1 and AHSG*2were similar to those in other areas of Japan

ISSN:0001-5652    

DOI:10.1159/000153903

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

Genetic variants of leukocyte mitochondrial glutamate oxaloacetate transaminase, mitochondrial malic enzyme and phosphoglucomutase locus III were studied in the Galician population. There was no significant heterogeneity between 8 Galician subpopulations. The gene frequencies in the total population were: GOT22 = 0.025; ME22 = 0.408; PGM23 = 0.333. No rare variants were found.

ISSN:0001-5652    

DOI:10.1159/000153904

出版商:S. Karger AG    

年代:1990

数据来源: Karger

摘要:

The genetic polymorphism of human factor H (β1H) was investigated by a combination of isoelectrofocusing and immunoblotting. This simple method is reliable and economical. The allelic frequencies in the Newfoundland population were estimated to be 0.597 and 0.403 for FH*1 and FH*2, respectively (129 individuals typed). No association of factor H types with rheumatoid arthritis was found (111 patients typed)

ISSN:0001-5652    

DOI:10.1159/000153905

出版商:S. Karger AG    

年代:1990

数据来源: Karger