摘要:

There is conflicting evidence as to whether the secondary sex ratio in humans decreases with paternal age. Such an age effect could be caused by an altered frequency in the production of X-chromosome and Y-chromosome-bearing sperm as a man ages. To study this possibility we analysed 9,225 sperm karyotypes from 143 men aged 21-55 years. Human pronuclear sperm chromosome complements were obtained after fusion with golden hamster oocytes. The percentage of X- and Y-chromosome complements was not significantly related to donor age.

ISSN:0001-5652    

DOI:10.1159/000154095

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

A novel variation of the Haplotype Relative Risk (HRR) of Rubinstein et al. [Hum Immunol 1981;3:384] is proposed, in order to glean increased information about linkage disequilibrium or allelic associations by analyzing haplotype-based data rather than genotypic data. It is shown that statistical tests based on our design give much higher power than those based on the original HRR approach. Several additional nonparametric tests based on the same data are analyzed, and power is computed for each of them. Further, parametric likelihood methods are applied to testing linkage equilibrium, and estimating δ, the coefficient of linkage disequilibrium, from the same data

ISSN:0001-5652    

DOI:10.1159/000154096

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The genetic structures of the population residing in the provinces of Venice and Rovigo in the Veneto region at the north of the Po delta in Italy was studied in 1,210 individuals residing in 18 sampling areas, using the phenotype and gene frequencies of 7 red cell enzymes: acid phosphatase (ACPI), esterase D (ESD), glyoxalase I (GLOI), glutamic-pyruvic transaminase (GPT), 6-phosphogluconate dehydrogenase (6-PGD), phosphoglucomutase 1 (PGM1), and phosphoglycollate phosphatase (PGP). For the analysis of the distributions of phenotype and gene frequencies, standardized variance and kinship profiles were used. It was found that the genetic differentiation within each province is low, and that only two systems, GPT and PGP, are significantly different between the two provinces. The samples studied seem to belong to a mainly homogeneous population.

ISSN:0001-5652    

DOI:10.1159/000154097

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

This paper reports the case of a 17-year-old male student from the Jaizan area in south-western Saudi Arabia who had sickle cell anaemia and possessed three α-genes on one chromosome (αααanti3.7) and two on the other. The clinical manifestations were severe, with frequent blood transfusion requirements and frequent episodes of painful crises, severe anaemia and tissue involvement. In comparison with age and sex-matched sickle cell anaemia patients with one α-gene deletion (-α/αα), or a normal α-gene arrangement (αα/αα), a more severe disease presentation was obvious in the propositus. It is suggested that with the surplus α-globin chains, more severe haematological and clinical abnormalities occur, these influence the phenotypic expression of sickle cell anaemia. However, more patients with this type of gene arrangement must be studied before a definite conclusion can be reached regarding the influence of excess α-globin chains on the presentation of sickl

ISSN:0001-5652    

DOI:10.1159/000154098

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Genetic polymorphisms of plasma α1-acid glycoprotein (orosomucoid, ORM), α2-HS-glycoprotein (A2HS) and α1-B-glycoprotein (α1B) were studied in a group of Parsis in Bombay, India. The frequencies of ORM1*1, ORM1*2 and ORM1*3 were found to be 0.636, 0.356 and 0.008, respectively. A2HS*1, A2HS*2 and A2HS*3 frequencies were 0.855, 0.135 and 0.010, while the frequencies of A1B*1 and A1B*2 were 0.881 and 0.119, respectively. The phenotype distribution at all three loci was at Hardy-Weinberg equilibrium. The ORM2 locus was monomorphic in the Par

ISSN:0001-5652    

DOI:10.1159/000154099

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

We determined the allele frequencies for three hypervariable DNA loci D2S44, D1S7 and D7S21 using the probes YNH24, MS1 and MS31 in the genetically isolated Finnish population. The allelic length ranges were 1.7– < 6.0 kb for YNH24, 1.7– < 18.0 kb for MS1 and 3.2– < 12.0 kb for MS31. High heterozygosity rates (0.94–0.96) were detected for all three probes. In 48 mother-child pairs no mutations were found using the probes YNH24 and MS31, whereas a mutation rate of 0.064 was observed for probe MS1. In addition, an unexpected four-band pattern was detected in 1 out of 170 individuals using the probe MS1, suggesting complex DNA polymorphism based on both a variable number of tandem repeats and restriction site polymorphism. Our findings also show that all three probes are valuable in individual identification in this genetically isolated pop

ISSN:0001-5652    

DOI:10.1159/000154100

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The Han population in Chengdu, China, was investigated for genetic polymorphisms of alpha-2-HS-glycoprotein (A2HS), group-specific component (GC) and orosomucoid (ORM) using isoelectric focusing followed by immunofixation. The allele frequencies were: A2HS*1 ≈ 0.6958, A2HS*2 = 0.3042, GC*1F = 0.4021, GC*1S = 0.3182, GC*2 = 0.2745, GC*1A = 0.0052, ORM1*F1 = 0.7028, ORM1*S = 0.2762, ORM1*F2 = 0.0210, ORM2*A = 0.9965, ORM2*Var = 0.003

ISSN:0001-5652    

DOI:10.1159/000154101

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

α-1-antitrypsin (PI) subtypes were studied in Poles and Russians. The frequencies of the PI alleles were similar in the two populations, with the exception of the Z allele, whose frequency was significantly lower in Poles. The M3 allele frequency, which is highly heterogenous in European populations, has medium frequencies in Poles and Russians

ISSN:0001-5652    

DOI:10.1159/000154102

出版商:S. Karger AG    

年代:1992

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154103

出版商:S. Karger AG    

年代:1992

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154104

出版商:S. Karger AG    

年代:1992

数据来源: Karger