摘要:

The distribution of C’3 phenotypes was studied in one tribal and three urban populations from India. The C’3F gene was found low in frequency compared to European and West Asian populations. Quantitatively also, the concentration of the C3 component in the Indian region was found significantly low compared to the European and West Asian populations reported previou

ISSN:0001-5652    

DOI:10.1159/000153042

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Linkage analysis using the LIPED program developed by Ott for the analysis of whole family data was performed on 175 families with variants of the hemoglobin β- or γ-chain. Comparison of our results with those in the literature indicate that there is little evidence for linkage with any of the currently used markers, although there is considerable heterogeneity in lod scores between sexes for the Duffy and MNS blood groups. It is suggested that the most successful approach in the future will be to analyze markers known to be localized on chromosomes which have been indicated as likely sites of the β-chain locus from hybridization studi

ISSN:0001-5652    

DOI:10.1159/000153043

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Phenotype and gene frequencies of the GLO I polymorphism in Vienna are given. No exception to the postulated rule of inheritance could be found in 23 families with 51 children and 132 mother-child pairs. Linkage with the HLA system is confirmed, but no linkage disequilibrium between GLO alleles and HLA-A, B, C genes was detected. The use of the GLO I polymorphism in paternity cases is discussed.

ISSN:0001-5652    

DOI:10.1159/000153044

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The genetic polymorphism of red cell GPT was investigated by starch-gel electrophoresis in four samples from northern Japan including a sample of the Ainu of Hokkaido. The distribution of the Gpt1 gene frequencies among 10 samples excluding the Ainu so far examined showed heterogeneity. The geographical cline of Gpt1gene frequency reported in southern Japan was not observed in northern Japan.

ISSN:0001-5652    

DOI:10.1159/000153045

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

7 cases of isolated branchial anomalies distributed in four consecutive generations of a Central Indian family are described: 6 were males and 1 was female. 3 members had a left-sided branchial sinus, 1 had a right-sided sinus, 2 had bilateral sinuses, and 1 had a right-sided cyst. The family shows that branchial (lateral cervical) cysts and sinuses are inherited as autosomal dominant characters, and that the two anomalies are indistinguishable genetically.

ISSN:0001-5652    

DOI:10.1159/000153046

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

A three-generation family, ascertained through the presence of two diabetic sibs, provides segregation data suggestive of the existence of a null allele at the glyoxalase (GLO) locus. This conclusion is supported by the GLO 1 phenotype in two children from a GLO 2 father. These two children inherited the same paternal HLA allele, while two other sibs received GLO 2 with the other paternal HLA haplotype. The rest of the pedigree is in agreement with this suggestion, while the segregation of all other informative markers does not suggest nonpaternity.

ISSN:0001-5652    

DOI:10.1159/000153047

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Two large families from the Faroe Islands presenting epidermolysis bullosa of the dystrophic type were subjected to extensive linkage analyses with 22 serological markers. No significant evidence in support of linkage with any of these loci was provided. It was found to be very unlikely that the gene or genes causing the present types of epidermolysis bullosa belong to the EBS1 locus known to be closely linked to the GPT locus.

ISSN:0001-5652    

DOI:10.1159/000153048

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Serum α-L-fucosidase was assayed in 422 individuals. Extremely low levels of enzyme activity were found in 26 individuals. This variant enzyme has increased heat lability. The remaining samples exhibited a bimodal frequency distribution. Family studies suggest that the variant is inherited as a Mendelian recessive character. The variant leukocyte enzyme exhibits normal activity yet increased heat lability. Serum and leukocyte samples from individuals who do not possess the low activity variant are heterogeneous with respect to the heat lability of α-L-fucosidase. This common polymorphism may be useful for mapping purposes in family studie

ISSN:0001-5652    

DOI:10.1159/000153049

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The saliva and milk of 250 parturient women were studied in relation to ABH antigen levels; part of the sample was also investigated for the Lewis (Lea) substance. The levels of A and B are higher in saliva, and those of H and Lea A2 A1 A in AB persons, and A1 A2 B in A, B and AB subjects, and A1≈ A2. The amount of Lea substance depends of the ABH secretor status in both secretions; but independently of this difference, the average titers were always higher in milk. Correlation coefficients between the levels observed in the two secretions are statistically significant for the A substance in A persons (0.46), H in B (0.58) and Lea in all subjects tested (0.47). A stepwise multiple regression analysis performed to verify the influence of four genetic and six nongenetic variables in the ABH levels of both fluids indicated only one consistent modifying factor: ABO typ

ISSN:0001-5652    

DOI:10.1159/000153050

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

β2-Glycoprotein I typings on 152 healthy Germans and 150 patients with atopic diseases did not show any differences in the serum protein concentrations or in the phenotype and gene frequencies. Compared to these German samples, Philippinos (n = 88) as well as healthy Negroes from South Africa (n = 192) revealed statistically significant lower concentrations of this serum protein. They differ also from the Germans with regard to phenotype and gene frequencies. A most striking result was found in the comparison of healthy and leprous Negroes (n = 250) from South Africa. In these, quite different and statistically significant β2-Glycoprotein I concentrations, respectively, phenotype and gene frequencies were seen, which may be due to this disease. The possible reasons for these observations as well as for the observed population differences are discusse

ISSN:0001-5652    

DOI:10.1159/000153051

出版商:S. Karger AG    

年代:1979

数据来源: Karger