摘要:

Variable number of tandem repeats (VNTR) loci are among the most polymorphic sequences described to date. VNTR allelic variability is a function of the high rates of de novo mutation due to intra- and inter-allelic recombination. We have assessed the allelic stability of VNTRs during recent human evolution, focusing on the relationship between an α-thalas-saemia-1 deletion that is common among South-East Asian populations (– –SEA/) and a VNTR located immediately downstream of the α-globin gene cluster (3’αHVR). More than 50 unrelated (– –SEA/) carriers were analyzed using a strategy that allowed the unambiguous assignment of a carrier’s 3’αHVR alleles to either the normal or the (– –SEA/) chromosome. The analysis revealed that 89% of the (– –SEA/) chromosomes are associated with 3’αHVR alleles that fall within a limited size range (5,415-6,442 bp for PvuII digests). In contrast, only 4% of the carriers’ normal chromosomes are associated with 3’αHVR alleles of this size range, and surveys of other racial and ethnic populations confirm that these 3’αHVR alleles are uncommon in general. Overall, these data indicate that the (--SEA/) deletion originally occurred on a chromosome marked by a rare 3’αHVR allele, and that this association has been relatively stable over the course of re

ISSN:0001-5652    

DOI:10.1159/000154192

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Blood samples of 811 mother-child pairs from Bengalee Hindu caste groups were utilised to study the interaction between ABO blood groups and haptoglobin systems. There was no significant difference in the haptoglobin distribution between mothers and children. Significantly higher incidences of HP*1 were noted in the offspring born to ABO-incompatible mother-child combinations in comparision to offspring born to ABO-compatible combinations.

ISSN:0001-5652    

DOI:10.1159/000154193

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Orosomucoid (ORM) types were studied by isoelectric focusing and immunoblotting in 175 psoriatic patients and 2,217 blood donor controls from the county of Västerbotten in northern Sweden. There was a significant difference between patients and controls with respect to the distribution of ORM types (p = 4 × 10–4. The ORM1 1 type showed an increased frequency among the psoriatic patients (p = 1 × 10–4) with a relative risk of 1.82 (95% CI: 1.34

ISSN:0001-5652    

DOI:10.1159/000154194

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The distribution of two common TaqIrestriction fragment length polymorphisms (RFLPs) of the cholesteryl ester transfer protein (CETP) gene were determined in 271 Italian-born and 170 Greek-born migrants to Melbourne, Australia. A much smaller number were examined for the EcoNl RFLP of the same gene. Allele frequencies of the TaqlA RFLP exhibited the least variation in both ethnic groups, and no significant regional heterogeneity in allele or genotype frequencies of either TaqlRFLP was detected for Greece or Italy. There was no difference between Italians and Greeks for the Taql A polymorphism and the variability at the B RFLP was of borderline significance. Comparisons with other Caucasian populations revealed that allele frequencies of all three CETP RFLPs are remarkably uniform within Caucasians, with the TaqlB polymorphism being the most variable.

ISSN:0001-5652    

DOI:10.1159/000154195

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

233 Pushtoons (129 males and 104 females), 51 Punjabi Muslims (29 males and 22 females) and 21 Afghans (15 males and 6 females) were screened for the presence of red cell glucose-6-phosphate dehydrogenase (G6PD) variants by a dye decolouration screening test and starch gel electrophoresis. The overall frequency of G6PD deficiency in males was found to be about 10%. 17 male G6PD-deficient samples were further investigated for the C→T substitution at nucleotide (nt) 563 (the Mediterranean mutation) and the C→T substitution at nt 1311 (the ‘silent’ allele) of the G6PD gene by PCR amplification followed by digestion with appropriate restriction enzymes. 10 of the 13 Pushtoon, 2 Punjabi and 1 Afghan males had the 563 mutations. Only 1 (Punjabi) out of 13 G6PD-deficient males with the 563 mutation had the silent mutation at nt 1311. The frequency of the silent mutation was found to be about 0.20 in the 60 Pushtoon and 19 Punjabi non-deficien

ISSN:0001-5652    

DOI:10.1159/000154196

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

315 mentally retarded children from the coastal districts of Andhra Pradesh, south India, were screened to detect metabolic defects. Results with 2 cases of Hunter’s syndrome, 1 case of Sanfilippo’s syndrome and an unusual case of hyperaminoaciduria are presen

ISSN:0001-5652    

DOI:10.1159/000154197

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

We examined the impact of a G→A mutation at position -75 of the apolipoprotein AI gene promoter in subjects with hypertriglyceridaemia from two racial groups, Caucasians (n = 52) and Japanese (n = 19) compared to their controls (n = 56 and n = 21 respectively). The mutation was genotyped by the polymerase chain reaction and subsequent digestion using HpaIIand BstNl. We found no significant differences in allele frequency in either control-control or case-control comparisons in European and Japanese populations. Linkage disequilibrium was observed between the mutation and the common alleles of two restriction fragment length polymorphisms, Mspland Sstllocated in the APOA1 and APOC3 genes, respectively, in the Japanese population. On the basis of these results, the G–75→A mutation is unlikely to be aetiological in predisposing to hypertriglycerid

ISSN:0001-5652    

DOI:10.1159/000154198

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

There is considerable debate regarding the effect of population subdivision (heterogeneity) on the probability of a chance or coincidental match between two DNA samples studied with respect to multiple, polymorphic genetic markers. We have theoretically investigated the relationship between the average similarity between two randomly chosen DNA samples and the probability of an identical match between these samples, and population subdivision. Our results demonstrate that the average similarity and the match probability is smaller when population heterogeneity exists as compared to a random mating population with identical gene frequencies, for realistic values of heterogeneity. In other words, ignoring subdivision provides numerical values only slightly larger than the true values and are, thus, conservative.

ISSN:0001-5652    

DOI:10.1159/000154199

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The distribution of phenylketonuria (PKU) mutations and haplotypes was studied in a sample of 50 families with at least one PKU child detected through the Lithuanian neonatal screening program from 1975 to 1992. Mutations were identified on 84 of the 100 alleles. Three mutations (R408W, R158Q, R261Q) together accounted for 78% of all chromosomes studied. The mutations IVS12ntl, IVS10nt546, 6272X, Q232Q were very rare. Nine different DNA haplotypes based on restriction fragment length polymorphisms at the phenylalanine hydroxylase locus were observed. The frequency of the mutant R408W is one of the highest in Europe. Most of the PKU patients were compound heterozygotes, and 47% were homozygotes for the mutations identified in this series.

ISSN:0001-5652    

DOI:10.1159/000154200

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The amplifiable VNTR polymorphic system COL2A1 has been investigated in Chinese and German population samples. In order to accurately identify COL2A1 alleles, a number of human allele ladders were prepared. A total of 14 different alleles in 23 genotypes was observed in the Chinese population, while in the German population there were If alleles in 24 genotypes. Four new alleles were observed. All of them were found in the Chinese and one was also observed in the German population. There was no statistical difference in the allele distribution between two German populations from Münster and Köln, while the allele frequency distribution in the Chinese population differed significantly from the Germa

ISSN:0001-5652    

DOI:10.1159/000154201

出版商:S. Karger AG    

年代:1994

数据来源: Karger