摘要:

Disturbances in dopaminergic activity may play an important role in the pathogenesis of manic depression. The effects of dopamine are mediated by at least five G protein coupled receptors, D1, D2, D3, D4 and D5. Recently, three separate research groups have cloned and characterized the D1 dopamine receptor, which localizes to 5q35.1. We undertook a linkage analysis between the Dl receptor polymorphisms and manic depression in six families in which segregation of the disease was consistent with autosomal dominant inheritance. A highly polymorphic flanking DNA marker, CRI-L1200, was also analyzed as the D1 gene RFLPs were relatively uninformative in our families. Multipoint analyses of manic depression and these DNA markers resulted in lod scores of less than –3.0 at the D1 locus, indicating that the Dl dopamine receptor gene does not confer an inherited susceptibility to manic-depressive illness in the families studie

ISSN:0001-5652    

DOI:10.1159/000154081

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

A genetic polymorphism of a human platelet polypeptide with a molecular weight of 28 kD detected by two-dimensional electrophoresis was investigated in family and population studies, and cell distribution. The 28-kD polypeptide showed autosomal codominant inheritance of two alleles. The gene frequencies of the two alleles were 0.925 and 0.075, respectively. The 28-kD polypeptide was observed in lymphocytes, neutrophils, eosinophils and monocytes, in addition to platelets. This polypeptide showed good reproducibility in electrophoresis, and appears to be useful as a genetic marker of the human genome in gene mapping and pedigree analysis.

ISSN:0001-5652    

DOI:10.1159/000154082

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

A small municipality of about 2,000 inhabitants on a large plain (that of the river Po, which flows across the whole of Northern Italy) was chosen as a model to study the level of genetic isolation of a population which is not delimited by clear geographical barriers. Wright’s treatment of isolation by distance was considered to be applicable to this case. Estimates of the non-random component of inbreeding and of the immigration rate in the past showed that, despite the deeply rural environment, the population turnover in the area was extremely rapid. Although the parameter estimates were computed on the basis of little direct empirical evidence, it was concluded that the effective population size was at least one order of magnitude larger than might appear when considering the total population size of the municipalit

ISSN:0001-5652    

DOI:10.1159/000154083

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The frequency of deletional α-thalassaemia in a Javanese population sample (n = 103) was investigated at three restriction sites of the α-globin gene (BamHI, BglII and RsaI). The overall gene frequency of α+ deletional thalassaemia was found to be very low (0.03). Leftward (–α4.2) and rightward (–α3.7) deletions and triplicated genes were present in equal frequency (0.015 and 0.005, respe

ISSN:0001-5652    

DOI:10.1159/000154084

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The effect of a DNA polymorphism (Mspl) of the apohpoprotein (apo) A-II gene on serum lipid and apo levels was studied in a group of 125 healthy Chinese of both sexes. The frequency of the 3.7-kb rarer allele (M2) was found to be significantly higher in the Chinese (0.30) than in Caucasians (0.16; p < 0.025). The distribution of apo A-II genotypes was in Hardy-Weinberg equilibrium in the Chinese population. The presence of a polymorphic site (Mspl) within an Alu sequence at the 3’ end of the gene, the 3.0 kb (M1)allele, was associated with significantly higher levels of serum apo A-I and A-II (p < 0.05 and < 0.01, respectively). Serum high-density Lipo-protein cholesterol levels were also correspondingly higher in individuals with M1, but did not reach a significant level. Male heterozygotes of the apo A-II polymorphism had significantly higher levels of serum triglycerides compared to homozygotes (p < 0.05). Thus the Mspl polymorphism of the apo A-II gene appears to be associated with altered levels of lipids and apos in the Chinese populatio

ISSN:0001-5652    

DOI:10.1159/000154085

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The polymerase chain reaction and nucleotide sequence analysis have been used to characterise two point mutations in the eighth exon of one allele of the C1-inhibitor gene in a kindred with type II hereditary angio-oedema (HAE). The mutations comprise a G to A substitution at C1-inhibitor gene nucleotide 16789 and an upstream C to T substitution at nucleotide position 16765. This represents the first report of these two mutations in the same C1-inhibitor allele in type II HAE. The molecular genetic pathogenesis of HAE is discussed in the light of these findings.

ISSN:0001-5652    

DOI:10.1159/000154086

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

A serological approach is used to confirm subtypes of HLA-B13 originally observed by one-dimensional isoelectric focusing (1D-IEF). Sixty anti-B13 alloantibody sera were screened against Chinese panel cells. Two clusters of sera showing distinct reactive patterns were identified. One is a shorter reactive pattern than the other. Using these serological reaction patterns, the B13 antigen can be divided into two subtypes, B13.1 and B13.2, in the Chinese population. These serological subtypes appear to correlate well with the 1D-IEF patterns of B13 subtypes. The serological subtyping is also in agreement with the differences in nucleotide sequence previously determined to exist in B13 antigen subtypes. Family studies show that both B13.1 and B13.2 segregate as HLA-B locus alleles. Gene frequencies for B13.1 and B13.2 were 0.0676 and 0.0612, respectively, in our study population of 337 southern Han Chinese.

ISSN:0001-5652    

DOI:10.1159/000154087

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The genetic variation of the human plasma proteins ORM1, C6, C7 and APO C-II was investigated by isoelectric focusing followed by immunoblotting in populations from mainland Italy and Sardinia. The frequencies of ORM1*1 were 0.621 and 0.564, while those of C6*A were 0.657 and 0.706 on mainland Italy and in Sardinia, respectively. In the Roman sample, 8 het-erozygotes with C6 variant alleles were encountered, while none were observed in Sardinians. For C7 and APO C-II a number of heterozygotes with the rare alleles C7*2 and APO C-II*2 were found, but their frequency did not reach polymorphic levels in either population. The two populations showed a significant difference in the gene frequencies distribution for ORM1.

ISSN:0001-5652    

DOI:10.1159/000154088

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Leber’s hereditary optic neuroretinopathy (LHON) was the first human disease for which mitochondrial inheritance was demonstrated. Analysis of genealogies, however, suggests the existence of an interacting X-linked factor, and linkage to DXS7 was recently described. We tested this location in four LHON families, with DXS7 and two flanking markers, OTC and DXS426. We found recombinations with DXS7 in two families and with DXS426 in one. The two point lod scores to DXS7 were negative with all the allele frequencies for the X-linked factor tested (q = 0.5; 0.35; 0.05

ISSN:0001-5652    

DOI:10.1159/000154089

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

PI and TF subtypes were studied in a sample of 137 individuals of the Chueta population. In addition to the PI*M alleles, PI*S, PI*Z, and PI*F were observed in the PI system. In the TF system no TF*B or TF*D alleles were found. PI results were compared with those of some Jewish and non-Jewish populations. The relatively high frequency of PI*S is indicative of a substantial Spanish influence. There are no previous data available on TF*C subtypes in Jews. The very low TF*C3 frequency in Chuetas (lower than in Spain) indicates that this allele may be extremely rare or absent in other Jewish populations.

ISSN:0001-5652    

DOI:10.1159/000154090

出版商:S. Karger AG    

年代:1992

数据来源: Karger