摘要:

The relative genetic diversity of selected proto-oncogenes in the native Hawaiian gene pool was examined by comparing the restriction fragment length polymorphisms of these genes in a group of 23 individuals with at least part Hawaiian ancestry, and in 20 individuals from other ethnic groups. Twenty-one combinations of the proto-oncogenes, c-fms, c-myc, L-myc, c-Ha-ras, and c-Ki-ras, tested with 1 or more of the restriction enzymes Bam HI, Eco RI, Hind III, Pst I, Pvu I and Kpn I were examined. Sixteen of these did not exhibit RFLPs in Hawaiians or in other ethnic groups. Four of the combinations exhibiting RFLPs in native Hawaiians exhibited similar-sized restriction fragments in the other ethnic groups. Only in the case of c-myc digested with Pst I were 5 individuals of Hawaiian ancestry found to have an RFLP which has not been detected in other ethnic groups. These 5 cases exhibited a 13-kb c-myc fragment in addition to the 5.5-kb fragment found in most Hawaiians and always present in other ethnic groups. The presence in Hawaiians of most RFLPs found in other ethnic groups indicates that the genetic diversity of proto-oncogenes in the gene pool of native Hawaiians is not substantially less than that of other ethnic groups.

ISSN:0001-5652    

DOI:10.1159/000154072

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Haplotypes or subhaplotypes in the β-globin gene cluster were examined in 31 normal Japanese and 21 Korean families. Major haplotypes were VII, V, and I, which shared a common sub-haplotype [+ – – – –], and occurred in 70% of the Japanese and 68% of the Koreans. Three haploypes which shared a common subhaplotype [– +– ++], bearing the XmnI site 5’ to the Gγ-globin gene, occurred in 13% of the Japanese and 7.3% of theKoreans. One subhaplotype [– ++ – +], which is closely linked to the AγT-globin gene, had an incidence of 6.6% in the Japanese and 20% in the Koreans. Rare subhaplotypes [– – – ++], and [– ++++] which has been observed mainly in Melanesians and Polynesians, and a very rare subhaplotype [– – – – –] were observed. The present study suggests that high or low Gγ-globin chain production is closely related to subhaplotypes [– + – ++] and [+ – – –

ISSN:0001-5652    

DOI:10.1159/000154073

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The percentages of minor adult hemoglobin (% Hb A2) in hemolysates and Gγ-globin chain (% Gγ) in fetal Hb (Hb F) of 15 individuals with elevated Hb F levels (2.0-11%) among 11,000 healthy Japanese adults were examined. Most of them might be carriers for the determinants of hereditary persistence of fetal hemoglobin. Subjects with less than 1.3% Hb A2, some of whom might be also carriers for δ-thalassemia determinants, had high Gγ values (54–70%). Those homozygous for a sub-haplotype [+-----] 5’ to the δ-globin gene had low to mid Gγ values (7–49%), while those homozygous for [-++-++]possessed high Gγ values (60-85%), but varied Hb F values (3.1–11%). Those heterozygous for the presence of the XmnI site 5’to (-158 bp to the cap site of) the Gγ-globin gene had mid tohigh Gγ values (53-65%). Factors for the high or low Gγ-globingene expression in the Japanese adult with elevated Hb F levelshould be highly associated with a subhaplotype [-++-++] or [+-

ISSN:0001-5652    

DOI:10.1159/000154074

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

RFLP analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a Cl-inhibitor gene mutation responsible for type I hereditary angio-oedema (HAE). A single base deletion (C-16698) from the eighth exon of the Cl-inhibitor gene alters the reading frame of the exon and generates a premature translation termination codon. This represents the first report of this form of Cl-inhibitor gene mutation in type I HAE.

ISSN:0001-5652    

DOI:10.1159/000154075

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

11 genetic markers were typed in 157 individuals suffering from alcoholic cirrhosis, and compared with a random sample of healthy individuals. No significant differences were found for transferrin, specific group component, orosomucoid, esterase D, phosphogluconate dehydrogenase and adenylate kinase. Strong associations between alcoholic cirrhosis and alpha-1-antitrypsin PI*Z allele, haptoglobin HP*1 allele and acid phosphatase ACP AC phenotype were observed. The biological significance of these associations and their relationships with the development of alcoholic cirrhosis are also discussed.

ISSN:0001-5652    

DOI:10.1159/000154076

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The structure of the genealogy of the Polar Eskimos from the Thule District of North Greenland is studied by a variety of computational and graphical means, some of them novel. It is shown that although the level of inbreeding in the population is low, the genealogy is intricately connected, as if conforming to the requirement that spouses are as unrelated as is possible in a small population.

ISSN:0001-5652    

DOI:10.1159/000154077

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The ratio of fetal hemoglobin to total hemoglobin (%Hb F), the ratio of Gγ to total γ globin (%Gγ), and the polymorphism of the XmnI site at –158 base pairs from the cap site of the Gγ-globin gene were examined in normal unrelated Japanese (n = 113) and Korean (n = 44) adults. The frequency of the presence of the XmnI site was 0.15 in the Japanese and 0.16 in the Korean population. There were statistically significant differences in the %Gγ values of the Japanese between those +/+ and those +/– or –/– at the XmnI site (p < 0.01). The Korean %Gγ values showed a statistically significant difference (p < 0.01) between those +/– and those –/–. The presence of the XmnI site was significantly associated with the elevation of Gγ-globin chain synthesis, but this relationship was not necessarily absolute. The absence of the XmnI site in an adult with a γ-globin gene triplication (Gγ AGγ Aγ/GγAγ) more or less reduced the level of Gγ-globin chain synthesis, but the presence of the XmnI site in an adult with a γ-globin gene deletion (GAγ/Gγ Aγ) had no effects on the propor

ISSN:0001-5652    

DOI:10.1159/000154078

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

We ascertained 8 multigenerational pedigrees afflicted with multiple cases of bipolar and recurrent major depressive disorder. Alterations in dopaminergic and noradrenergic neurotransmission have been implicated in the pathogenesis of this disease, and tyrosine hydroxylase (TH) is the rate-limiting enzyme in the synthesis of these two catecholamines. As TH mutations could underlie susceptibility to manic-depression, we carried out a linkage analysis between this disease in 8 families and two RFLP probes that map to the TH gene region on the short arm of chromosome 11. Evidence of linkage was not found in 7 of 8 kindreds.

ISSN:0001-5652    

DOI:10.1159/000154079

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The distribution of the phenotypes for coagulation factor XIIIA subunit (F13A) of autochthonous individuals from the following five Spanish populations was studied: Galicia, Castilla-León, Castilla-La Mancha, Extremadura and Western Andalusia. The frequency values obtained for F13A*2 ranged from 0.248 to 0.311. To date, these values are the highest recorded in the world

ISSN:0001-5652    

DOI:10.1159/000154080

出版商:S. Karger AG    

年代:1992

数据来源: Karger