摘要:

Previous studies have reported a high incidence of hemoglobin E (HbE) in Northeast Indian populations. In the present study 10 endogamous populations of Assam belonging to two racial groups, Caucasoid and Mongoloid, were examined. The frequency of HbE gene (Hb βE) in the Caucasoid caste populations is around 0.1, whereas the gene is highly prevalent in the Mongoloid populations, frequencies ranging between 0.2 and 0.6. Predominance of Hb βE in the Tibeto-Burman speakers is contrary to observations made in Southeast Asia, where an association between Austro-Asiatic speakers and high prevalence of HbE exist. The highest occurrence of the gene in this area, which is on the far end of the proposed centre of distribution in Northern Kampuchea and Northeast Thailand, is also a deviation from the expected pattern of gene distribution. It is speculated that Hb βE in the Tibeto-Burman populations of Assam arose by an independent mutation which contributed to the high frequencies of Hb βE in the Northeast Indian populati

ISSN:0001-5652    

DOI:10.1159/000153796

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Two new alleles (A1B*3 and A1B*4) of human plasma (α1B -glycoprotein (α1B) were reported. α1B phenotyping was done by using either a simple method of two-dimensional (2-D) agarose gel-horizontal polyacrylamide gel electrophoresis (PAGE) followed by protein staining or by one-dimensional horizontal PAGE and immunoblotting. Seven different α1B phenotypes (1–1, 1–2, 1–3, 1–4, 2–2, 2–3 and 3–3) were observed; phenotypes 1–3 and 1–4 were differentiated from each other only by the 2-D method. The respective frequencies of A1B*1, A1B*2, A1B*3 and A1B*4 alleles in the studied populations were estimated as follows: American Blacks (New York) 0.732, 0.204, 0.064, 0; American Whites (New York) 0.947, 0.053; Czechs (Mělník) 0.964, 0.034, 0, 0.002; Slovaks (Bratislava and Trenčin) 0.977, 0.023, 0, 0. The population of American Blacks showed a much higher degree of α1B polymorphism (polymorphism information content = 0.37) than the Caucasian populatio

ISSN:0001-5652    

DOI:10.1159/000153797

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Genotypes identified by two restriction fragment length polymorphisms (RFLPs) of the insulin receptor gene (IRG) with the restriction endonuclease Sst-1 were determined in a Japanese group comprising 51 patients with non-insulin-dependent diabetes mellitus (NIDDM) and 50 control subjects. Southern hybridization using a probe for the beta subunit of the human IRG identifies 4 alleles, termed S1(+) (5.3 kb), S1(–) (5.8 kb), S2(+) (7.0 and 2.4 kb) and S2(–) (9.4 kb). The frequencies of genotypes possessing the S1(–) allele in Japanese controls and Japanese NIDDM patients were 0.11 and 0.16, respectively. Unlike the previously reported association of the S1(–) allele with NIDDM found in Caucasians there was no significant difference in the frequency of the S1(–) allele between non-diabetic and NIDDM Japanese patients. There was a significant difference in the frequency of the S2(+) allele between Caucasian control subjects (0.14) and Japanese controls (0.0) and NIDDM patien

ISSN:0001-5652    

DOI:10.1159/000153798

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

The genes coding for the apolipoproteins E, C1 and C2 are clustered on the long arm of chromosome 19 in a region of approximately 45 kilobases (kb). In a normolipidemic individual, we detected a new apoE variant with an isoelectric point between that of E3 and E4. As this variant lacks cysteine residues and has probably arisen from an E*4 allele, it is designated E4*. To gain further insight into the origin of the mutation, the haplotypes of the propositus were extended by restriction fragment length polymorphism (RFLP) analysis of the family. The apoE variant cosegregates with the H2 allele of the Hpal polymorphism visualized with an APOE probe and with a new rare 4.5-kb fragment (T3) of the TaqI RFLP detectable with an APOC2 probe. As the propositus and the first-degree relatives with this unique haplotype are normolipidemic, this apoE variant does not seem to be associated with disturbances in the lipoprotein metabolism.

ISSN:0001-5652    

DOI:10.1159/000153799

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Familial porphyria cutanea tarda (PCT) results from a deficiency of uroporphyrinogen decarboxylase (URO-D) activity. Hybridization analysis of genomic DNA from unrelated normal individuals and PCT pedigree members failed to detect any major deletions, rearrangements or restriction fragment length polymorphisms at the URO-D locus.

ISSN:0001-5652    

DOI:10.1159/000153800

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

A Philippine population was investigated for genetic polymorphism of orosomucoid 1 (ORM1), orosomucoid 2 (ORM2), and alpha-2-HS-glycoprotein (A2HS) by isoelectric focusing. The allele frequencies were: ORMl*1 = 0.7904, ORMl*2 = 0.1687, ORM1*2 · 1 = 0.0409, ORM2*1 = 1.0000; A2HS*1 = 0.6870, A2HS*2 = 0.3130. Compared with the Japanese population, the Philippine population has higher frequencies of ORMl *1 and A2HS*2, and lower frequencies of ORMl *2 · 1 and A2HS*

ISSN:0001-5652    

DOI:10.1159/000153801

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Frequencies of the A1A2B0 blood group genes were studied in a material of 5,632 conscripts and blood donors from the counties of Norrbotten and Västerbotten in northern Sweden. The individuals were distributed according to place of birth into 23 subpopulations. In northern Sweden different clines were found for the A1, A2 and 0 genes. The frequencies of the A1 and A2 genes were increasing in the northeastern respectively northern direction, and the frequency of the 0 gene was increasing in the southwestern direction. These geographical patterns could be explained in terms of Finnish and Lappish influence

ISSN:0001-5652    

DOI:10.1159/000153802

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Two familial cases in which the saliva Lea levels were seen to dissociate with the donors’ red blood cell (RBC) Lewis types are reported. In case 1, the saliva from a donor with an RBC type of Le(a+b–) contained a low level of Lea antigen. A low Lea level was also observed in the saliva from this proband’s father who has an RBC type of Le(a+b–). In case 2, the saliva from a donor with an RBC type of Le(a–b+) contained a high level of Lea antigen. High Lea levels were also present in the saliva of this proband’s father and brothers with an RBC type

ISSN:0001-5652    

DOI:10.1159/000153803

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

Blood samples from 120 Tunisian Berbers of Gallala village were typed for Gm and Km immunoglobulin allotypes, alpha-1-antitrypsin variants and ABO blood groups. The results were compared with those of other Berber groups. The combined data, considered in the light of sociological, historical and paleontological data, support the hypothesis that the Berbers are native to North Africa and their ancestors, the first modern man (Homo sapiens) of North Africa, were the founders of the European populations. The ancestors of the Berbers could have been an intermediate population between H. sapiens from Europe and from South Africa.

ISSN:0001-5652    

DOI:10.1159/000153804

出版商:S. Karger AG    

年代:1988

数据来源: Karger

摘要:

This paper reports the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the male and female population of Al-Ula in the northwestern province of Saudi Arabia. The frequency of G6PD deficiency in the male population was 0.098 and in the females it was 0.028. This frequency is significantly lower than those reported for other malaria endemic regions in Arabia. The population was further subgrouped on the basis of their haemoglobin phenotypes and the highest frequency of G6PD deficiency was obtained in male Hb S heterozygotes followed by the male Hb S homozygotes. Phenotyping of G6PD revealed the presence of G6PD-Mediterranean, G6PDA+, G6PDA- and G6PD Mediterranean-like, and the frequency of these variants in Al-Ula was different from those reported in other regions of Saudi Arabia.

ISSN:0001-5652    

DOI:10.1159/000153805

出版商:S. Karger AG    

年代:1988

数据来源: Karger