摘要:

In a case of disputed paternity with overwhelming indications of fatherhood for the putative father, as supported by serological tests and biostatistical evaluation, a classical exclusion constellation was found at the α1-antitrypsin (PI) locus: mother PI M1; child PI M1M3, and putative father PI M1M2. Additional studies included PI oligonucleotide phenotyping and DNA fingerprint analysis. Results from the entire data set led us to assume a rare genetic event at the paternal PI locus. Intracistronal crossing-over offered the most parsimonious explanation, and was compatible with the PI gene DNA sequence and the amino acid sequences of the molecule and its allelic forms, as well as with the experimental findings

ISSN:0001-5652    

DOI:10.1159/000153966

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

We compared the family distances of patients with autosomal recessive disorders with those of a random control group and a matched control group. Only in the great-grandparental generation were weak-significant differences found. We also found that the family distances of persons with an urban origin were significantly larger than those of persons with a rural origin. In our study, family distance seems to be a more powerful measure of hidden consanguinity than the parental distance.

ISSN:0001-5652    

DOI:10.1159/000153967

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) was characterized in blood samples of 94 male subjects in Sudan having deficient and non-deficient electrophoretic variants. They comprised 44 GdB, 17 GdA, 19 GdB-, 11 GdA- and 3 non-deficient (GdKhartoum) variants. Biochemical characteristics including enzyme activity, electrophoretic mobility, Km for glucose-6-phosphate (G6P) and nicotinamide adenine dinucleotide phosphate (NADP), heat stability and pH optimum of all the common and deficient variants were consistent with the reported characteristics of these variants. The Gdĸhartoum variant had 9% mobility in TEB buffer and 100% in phosphate buffer, 120% activity, Km of 130 ± 49 µm for G6P and 0.8 ± 0.2 µm for NADP, lowered thermostabil-ity and an optimum pH of 7.6. This variant was not inhibited by 15 mM maleic acid, 10 m Miodoacetate and dehydro-iso-androsterone. All other variants were inhibited by dehydro-iso-androsterone but uninhibited by maleic acid and iodoace

ISSN:0001-5652    

DOI:10.1159/000153968

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

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%.

ISSN:0001-5652    

DOI:10.1159/000153969

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

This study was conducted on 429 blood samples collected from Saudi males and females from Al-Ula in the north-western province of Saudi Arabia in order to determine the frequency of the sickle cell gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency gene, and α- and β-thalassaemia genes, and to investigate the pattern of their interactions. The frequency of the sickle cell gene was 0.0785, while that of the β-thalassaemia gene was 0.1195. Heterozygous α-thalassaemia 2 (–α/αα) was encountered at a frequency of 0.121, while homozygous α-thalassaemia 2 (–α/-α) occurred at a frequency of 0.0046. HbH disease and hydrops fetalis were not encountered. One case with triple α-gene arrangement, αααanti-3.7, was identified. The G6PD deficiency gene frequency was 0.08 and 0.032 in males and females, respectively. Several cases with 2 abnormal genes were encountered. The haematological and biochemical data from the patients with sickle cell disease suggest that the disease in this population is more severe in comparison with cases reported from the e

ISSN:0001-5652    

DOI:10.1159/000153970

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

A sample of 443 Chuetas (descendents of Majorcan Jews) was typed for the ABO, Rh, Lewis, Duffy, MNSs, Kell and P blood groups. Significant deviations from the Hardy-Weinberg equilibrium were observed in the MNSs and Duffy systems with a deficiency of heterozygotes. The gene frequencies were compared with those of the Balearic non-Jewish populations and significant differences were found. Genetic distances and cluster analysis demonstrated that the Chuetas resemble more their neighboring non-Jewish populations than other Jewish populations. Discriminant analyses showed that the Chuetas and other Jews considered in this study do not resemble each other but their host peoples with respect to these markers.

ISSN:0001-5652    

DOI:10.1159/000153971

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

The Gc, Hp, and Tf polymorphisms were studied in the population of South Yemen. The gene frequencies were in agreement with those of other populations in the Middle East. There was an indication of local variations due to ethnic heterogeneity, e.g. a relatively high frequency of TfD in 1 of the 5 subpopulations studied.

ISSN:0001-5652    

DOI:10.1159/000153972

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

A total of 627 subjects comprising 455 Chinese, 127 Dravidian Indians and 45 Malays were investigated for serum Apo A-IV polymorphism. The frequency of Apo A-IV*2 was found to be significantly higher (p& < 0.001) in Indians (0.043) compared to that in the Chinese (0.010) and Malays (0.011). The frequency of A-IV*3 was found to be around 0.02 in all the ethnic groups. A low frequency of A-IV*4 &(< 0.01) was observed in the Chinese and Indians. The phenotypic distribution of Apo A-IV was at Hardy-Weinberg equilibrium in the three ethnic groups.

ISSN:0001-5652    

DOI:10.1159/000153973

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

The distribution of group-specific component (Gc) phenotypes and the Gc allele frequencies were investigated in 1,082 individuals from five different provinces of Saudi Arabia by the combined use of isoelectric focusing and immunofixation. Between provinces variations in the Gc allele frequencies were found. Gc1S decreased and Gc1F increased from the northwest to the southeast in Saudi Arabia. The overall frequencies in Saudi Arabia were 0.236 for Gc1F, 0.610 for Gc1s, 0.150 for Gc2 and 0.004 for rare alleles. The observed frequencies did not differ significantly from those found in other population samples from the Middle East. In nine samples rare Gc variants were found.

ISSN:0001-5652    

DOI:10.1159/000153974

出版商:S. Karger AG    

年代:1991

数据来源: Karger

摘要:

The restriction fragment length polymorphisms (RFLPs) of 3 collagen genes have been studied in two USSR populations. Four high-frequency alleles, also reported in other populations, were observed. The frequencies of alleles for the polymorphic sites Mspl and EcoRI of the COL1A2 gene, Hindlll of the COL2A1 gene and EcoRI of the COL3A1 gene were found to be 0.836, 0.398, 0.447 and 0.786, respectively, in Russians from Moscow (Caucasians), and 0.883, 0.519, 0.648 and 0.809, respectively, in Buryats from the Baikal region (Mongoloids). The RFLPs showed a fair agreement with the Hardy-Weinberg equilibrium. The frequencies were compared with those of other populations.

ISSN:0001-5652    

DOI:10.1159/000153975

出版商:S. Karger AG    

年代:1991

数据来源: Karger