摘要:

Bell and Sstl restriction fragment length polymorphisms of human liver/bone/kidney or tissue-non-specific alkaline phosphatase were studied in population samples of Finns, Swedes and Swedish Saamis. No significant allele frequency differences were found between the three ethnic groups, but in comparison with a previously reported study of North American Caucasians, a highly significant difference was found with respect to BclI alleles. In contrast to previous findings, a significant linkage disequilibrium was found betweeen BclI and Sstl alleles.

ISSN:0001-5652    

DOI:10.1159/000154260

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

A study has been carried out in Riyadh to determine the incidence and distribution of Down’s syndrome births during a 9-year period from July 1982 to June 1991. Down’s syndrome was ascertained in 42 (23 females and 19 males) of 23,261 consecutive babies born alive to Saudi women, giving an incidence of 1 in 554 live births (1.8 per 1,000). A trend towards an increased incidence of Down’s syndrome with advanced maternal age or increased maternal parity was found. Cytogenetic studies were performed on 37 cases of which all but 1 were non-disjunction trisomy 21, while the remaining infant had a translocation. This study provides the first step for further epidemiological surveys of Down’s syndrome in the Kingdom of Saudi Arabia in order to prepare the ground for an effective antenatal screening programme for chromosomal di

ISSN:0001-5652    

DOI:10.1159/000154261

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Allele and genotype frequencies for the 3’-ApoB locus were determined in a population sample from Catalonia (northeast Spain) using PCR amplification and nonradioactive detection. In a total of 308 unrelated individuals, 16 alleles and 50 genotypes were observed. The 3’-ApoB locus demonstrated a heterozygosity of 80%. The distribution of genotypes is in agreement with expected values according to the Hardy-Weinberg equilibr

ISSN:0001-5652    

DOI:10.1159/000154262

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The chromosomal localisation of the human gene coding for peroxisomal 3-oxoacyl-CoA thiolase (ACAA) was determined by human-hamster somatic cell hybrids and fluorescence in situ hybridisation, using cDNA and genomic probes, respectively. The results allowed an exclusion of the previously suggested presence of a second site for ACAA on chromosome 11 and an assignment of the gene to a single chromosome band (3p22).

ISSN:0001-5652    

DOI:10.1159/000154263

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The single-strand conformational polymorphism technique was used to search for neutral polymorphisms in 18 PCR-amplified dystrophin gene fragments. Out of the seven polymorphisms (six intronic and one exonic) detected in Caucasians, one was absent from the Oriental population. Significant differences in allele frequencies between the two populations were observed for three of the intronic polymorphisms. In Caucasians, one variant position occurred per 728 bp of the total DNA or one per 483 bp of the intronic sequence; the corresponding average heterozygosities were 0.04 and 0.06%, respectively.

ISSN:0001-5652    

DOI:10.1159/000154264

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Two microsatellite markers, D16S283 and D16S284, closely linked to the locus of autosomal polycystic kidney disease (PKD1), were amplified in a Japanese population sample by the polymerase chain reaction to investigate differences in allele frequencies between Japanese and Caucasian populations. Ten D16S283 alleles and four D16S284 alleles were discerned among 53 Japanese. The observed heterozygosities of D16S283 and D16S284 in this study were 76.8 and 9.1%, and the polymorphism-informative contents were 0.75 and 0.09, respectively. Several allele frequencies of D16S283 exhibited significant differences. The Y9 allele (19 CA repeats, 91 bp) was the most frequent in both populations but its frequency in Caucasians was higher. The second most frequent allele was different: Y6 (22 CA repeats, 97 bp) in Japanese and Y10 (18 CA repeats, 89 bp) in Caucasians. Y8 (20 CA repeats, 93 bp) and Y11 (17 CA repeats, 87 bp) alleles also showed different frequencies. For D16S284, no differences in allele frequencies were observed between the two populations. As we observed differences in allele frequencies for D16S283, an association study with this polymorphism should carefully control for the ethnic origin of subjects.

ISSN:0001-5652    

DOI:10.1159/000154265

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Allele frequency distributions were determined for seven microsatellite DNA markers spanning the short arm of chromosome 6 in a population of African-Americans. A total of 196 chromosomes were analyzed. African-Americans differed from reported studies on Caucasians in the number of alleles, allele frequency and predominating alleles. These differences resulted in higher heterozygosity and polymorphic information content for these loci in the African-American population than in Caucasians. Each marker appeared to be in Hardy-Weinberg equilibrium within this population. These results demonstrate the need to determine population-specific allele frequency distributions for polymorphic markers when performing genetic linkage studies in racially defined groups. This study provides gene frequency data for this ethnic group in a region of the genome which has attracted attention as contributing genetic susceptibility to a number of diseases.

ISSN:0001-5652    

DOI:10.1159/000154266

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The sixth, seventh and eighth exons of both alleles of the C1-inhibitor gene were nucleotide sequenced in 52 individuals from 20 kindred with type I hereditary angio-oedema (HAE), 5 kindred with type II HAE and 10 control kindred. Four previously unreported nucleotide which had no disease specificity were identified in addition to a sequencing error in the eighth exon. In addition, a T → C mutation at position 8770 (resulting in a Phe → Leu substitution at position 291) was identified on the abnormal allele of the affected members of a family with type I HAE due to an exon 6 donor splice site mutation. The significance of this mutation is not known. Disease-specific mutations were identified in 100% of type II HAE kindred and in 20% of type I HAE kindred. The relevance of these findings to the evolving understanding of the molecular genetics of HAE is discus

ISSN:0001-5652    

DOI:10.1159/000154267

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

We have developed a version of the CRI-MAP computer program for genetic likelihood computations that runs the FLIPS and ALL functions of CRI-MAP in parallel on a distributed network of workstations. The performance of CRI-MAP-PVM was assessed in several linkage analyses using the FLIPS option of CRI-MAP on a map of 85 microsatellite markers for human chromosome 1. These analyses showed excellent speedup and efficiency and low distribution overhead. In addition, we have adapted the MultiMap program for automated construction of linkage maps to use CRI-MAP-PVM. These improvements significantly reduce the time required to compare likelihoods of different marker orders. Thus, the construction of linkage maps can proceed in a more timely fashion, in keeping with recent advances in genotyping technology.

ISSN:0001-5652    

DOI:10.1159/000154268

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Orosomucoid (ORM) is an immunosuppressive acute-phase reactant controlled by two different loci: ORM1 and ORM2. In previous studies, the ORM 1 1 type has been found to be associated with psoriasis and sarcoidosis, presumably by influencing the progression and clinical course of these disorders. In this report, a significant association between the ORM 1 1 type and allergic contact dermatitis in male patients (relative risk = 1.9, 95% confidence interval = 1.0-3.6) is presented.

ISSN:0001-5652    

DOI:10.1159/000154269

出版商:S. Karger AG    

年代:1995

数据来源: Karger