摘要:

Four families are reported in which the E1j gene is segregating. Two E1j E1k and one E1j E1f genotypes have been recognised by genetic analysis. The biochemical characteristics of several E1jgenotypes are presented.

ISSN:0001-5652    

DOI:10.1159/000153823

出版商:S. Karger AG    

年代:1989

数据来源: Karger

摘要:

Haptoglobin (Hp) groups were investigated in 148 patients with bronchial asthma. A significant (p < 0.005) deviation from the expected Hardy-Weinberg equilibrium, with a decreased frequency of heterozygotes, was observed among patients with a family history of asthma. This deviation was more pronounced among patients with adult onset of asthma. The presence or absence of atopy had no significant influence on the phenotype distribution.

ISSN:0001-5652    

DOI:10.1159/000153824

出版商:S. Karger AG    

年代:1989

数据来源: Karger

摘要:

The γ-globin chains of haemoglobin F are encoded by two non-allelic genes which synthesise two different γ-chains referred to as Gγ and Aγ. Xmn I restricts on both sides of the genes and normally produces an 8.1-kilobase (kb) fragment containing both γ-genes. A polymorphic site on the 5’ end of the Gγ genes has been reported in some populations and it results in the production of a 7.0-kb fragment containing both

ISSN:0001-5652    

DOI:10.1159/000153825

出版商:S. Karger AG    

年代:1989

数据来源: Karger

摘要:

In the county of Västerbotten in northern Sweden, a large number of individuals with the rare blood group p have been found. The ancestors of all known 31 cases were studied genealogically, and the data showed that about one half of all cases (15 out of 31 in 9 out of 20 families) could be traced to one gene source in the north-eastern part of the county in the middle of the 17th century. In two of the families the parents were first cousins and in three they were second cousins. In the 18th and 17th centuries genealogical connections between the parents were found in another 10 of the families

ISSN:0001-5652    

DOI:10.1159/000153826

出版商:S. Karger AG    

年代:1989

数据来源: Karger

摘要:

The metabolism of isoniazid was investigated in 323 unrelated and healthy Nigerians in Lagos using a simple dosage and urinalysis procedure. The distribution was bimodal and the population frequency of rapid acetylators was 61.92%, a value higher than that for most Caucasian populations. Males and females were equally affected by the traits. Analysis of both the population and pedigree data showed that the slow acetylator phenotype is a recessive trait, and the gene frequency of the recessive allele as computed by maximum likelihood methods is 0.6175 ± 0.022. The clinical implications of these findings are discussed

ISSN:0001-5652    

DOI:10.1159/000153827

出版商:S. Karger AG    

年代:1989

数据来源: Karger

摘要:

A new allele (A1B*5) of human plasma α1B-glycoprotein (α1B) was reported. α1B phenotyping was done by two-dimensional agarose gel (pH 5.4)-horizontal polyacrylamide gel (pH 9.0) electrophoresis followed by protein staining. The α1B phenotypes 1–1, 1–2, 1–5 and 2–2 were observed in Finns and phenotypes 1–1, 1–2, 1–5 and 2–5 in Swedish Lapps. The respective frequencies of A1B* 1, A1B*2 and A1B*5 were 0.9575, 0.0350, 0.0075 in Finns and 0.8922, 0.0653, 0.0425 in Swedish Lapps. The Swedish Lapps showed a higher degree of α1B polymorphism (polymorphism information content = 0.19) than other Caucasian populations th

ISSN:0001-5652    

DOI:10.1159/000153828

出版商:S. Karger AG    

年代:1989

数据来源: Karger

摘要:

Data are presented on six erythrocyte enzyme polymorphisms (ADA, GLO I, EsD, AK, AP, GPI) in the Kamboh, a scheduled caste inhabiting the Patiala district of the Indian state of Punjab. With their high ADA2 (18.5%), Pa (42.5%) and GPI3 (5.3%) and a rather low GLO1 (18.8%) frequencies, the Kamboh differ from all other populations of Punjab.

ISSN:0001-5652    

DOI:10.1159/000153829

出版商:S. Karger AG    

年代:1989

数据来源: Karger

摘要:

Restriction fragment length polymorphism (RFLP) of human alkaline phosphatases was studied in a population sample from northern Sweden using a placental alkaline phosphatase (PLAP) cDNA probe. After digestion of human genomic DNA with Rsal the Southern blots showed DNA fragments most probably derived from three genes: PLAP, germ cell alkaline phosphatase (PLAP-like) and intestinal alkaline phosphatase. In agreement with a previous study, a two-allele polymorphism was found in PLAP with bands at 1.6 kilobases (A1) and 1.8 kilobases (A2). The gene frequencies of A1 and A2 were 0.46 and 0.54, respectively. There was a significant correlation between the Rsal RFLPs and electrophoretic types of PLAP; RSAI A2 showed an association with the ALP2Pallele of PLAP.

ISSN:0001-5652    

DOI:10.1159/000153830

出版商:S. Karger AG    

年代:1989

数据来源: Karger

摘要:

Group-specific component (Gc) polymorphism was investigated in 559 individuals from Aragon. The gene frequencies were compared to those reported for other European populations.

ISSN:0001-5652    

DOI:10.1159/000153831

出版商:S. Karger AG    

年代:1989

数据来源: Karger

摘要:

The polymorphism of C7 was investigated in neuraminidase-treated sera from 513 unrelated Japanese individuals using isoelectric focusing followed by an electroimmunoblotting technique. Besides the common phenotypes 5 rare variants including 2 types of new variants were detected. The family analysis suggested the hereditary occurrence of a new allele C7*8. The allele frequencies were: C7*1 = 0.8314, C7*2 = 0.0926, C7*3 = 0.0380, C7*4 = 0.0331, C7*6 = 0.0010, and C7*8 – 0.003

ISSN:0001-5652    

DOI:10.1159/000153832

出版商:S. Karger AG    

年代:1989

数据来源: Karger