摘要:

We have improved the resolution of the conventional method for phenotyping deoxyribonuclease I (DNase I), which makes use of isoelectric focusing, by the addition of amphoteric separators. The distribution of DNase I phenotypes was extensively examined using this improved method in 1,212 unrelated individuals from a Japanese population. In order to investigate a possible difference in phenotype distribution between different populations, DNA samples from Germans and African Americans were genotyped using the polymerase chain reaction. The DNASE 1*2 allele in the German population was found to be predominant among the four alleles of DNase I, in contrast to the Japanese population. These results are the first to demonstrate a wide distribution of DNase I polymorphism in the Japanese population as well as in two other populations.

ISSN:0001-5652    

DOI:10.1159/000154399

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

The nucleotide sequence and chromosomal localization of a human pseudogene is reported. Sequence data suggest that this pseudogene was derived via reverse transcription from the gene encoding the cytosolic isoform of the enzyme serine hydroxymethyltransferase. In addition, a heteroduplex analysis of this pseudogene among several species of nonhuman primate indicates a relatively high degree of sequence conservation.

ISSN:0001-5652    

DOI:10.1159/000154400

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

Population data studies for six short-tandem repeat loci (HUMCSF1P0, HUMTPOX, HUMTH01, HUMHPRTB, HUMFES/FPS, and HUMvWF) were carried out on a sample of 326 autochthonous Basques. Comparing with other European samples, we found the highest frequencies known so far for allele 11 of the HUMCSF1P0 locus (0.380), allele 10 of the HUMFES/FPS locus (0.384), and allele 17 of the HUMvWF locus (0.329). On the other hand, we found the lowest frequencies recorded in Europe for allele 12 of the HUMCSF1P0 locus (0.291), allele 7 of the HUMTH01 locus (0.128), and allele 11 of the HUMFES/FPS system (0.317). These results support the hypothesis that the Basque population is a remnant of early European settlers.

ISSN:0001-5652    

DOI:10.1159/000154401

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

The genes of an individual are said to be preserved in his relatives if they possess, collectively, all copies of his genes. We present a method for computing the probability that an individual’s genes are preserved in his relatives. Using this method, we compute gene preservation probabilities (up to three linked loci) for a variety of relationships for humans and for haplodiploid species. The results suggest that some widely held notions in ethology and sociobiology seem to be questionable. From the gene preservation viewpoint, two brothers are far from enough to justify the sacrifice of one’s own life, because the probability that an individual’s genes are preserved in his two siblings is dismally small. The precise probability that an individual’s genes are all preserved in a group of his relatives depends on the precise specification of the pedigree structure. We also demonstrate that, for a hymenopteran female, there is no practical difference, in terms of gene preservation probability, between helping her sisters to breed and breeding her own offspring. In fact, since the genes of her sister will be either lost or preserved in her nieces/nephews, it is more appropriate to compare the probability of preserving her genes through her own offspring with that through her nieces/ nephews. We show that her chance of preserving all her genes is much higher if she chooses to breed her own offspring instead of helping her

ISSN:0001-5652    

DOI:10.1159/000154402

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

A genealogical study was performed in Lithuanian phenylketonuria (PKU) families with the aim of tracing the origins of the R408W/haplotype 2/VNTR3 allele. The relative frequency of six phenylalanine hydroxylase (PAH) mutations (R408W, R158Q, R261Q, G272X, IVS10nt-11g→a, and IVS12nt1g→a) common in Eastern European populations and their association with variable number of tandem repeat (VNTR) and short tandem repeat (STR) sites in the PAH gene were examined in 130 PKU Lithuanian chromosomes, including 95 of Baltic, 28 of Slavonic and 7 of unknown origin. R408W was found to be the most frequent (70%) mutation in both Baits or Slavonians with a uniform frequency distribution. No statistically significant differences in the frequency distribution of the other mutations analysed were found. In Baits and Slavonians, the R408W mutation is strongly associated with the three-copy VNTR and the 240-bp STR allele. The frequency of this association is 68% in both ethnic groups. The genealogical data provided in this paper indicate that the most common R408W/VNTR3/STR240 allele arose in ancient times possibly among pre-Indo-Europeans and suggest that the high frequency of the R408W mutation and associated minihaplotype in Baits of Lithuania is due to a founder eff

ISSN:0001-5652    

DOI:10.1159/000154403

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

Genotypes and phenotypes were studied in 31 Turkish HbS-β-thalassemia patients. In 19 patients the β-thalassemia mutations were β+ and in 12 the β° phenotype. The IVSI-110 mutation was found in 45% of the patients. IVSI-1, β39, IVSII-1 and FSC8 are the genotypes associated with β°-thalassemia. Hematological data were evaluated at the time of diagnosis and 4 years after diagnosis. The mean HbF value was 13 ± 7.8% at diagnosis and 9.7 ± 7.8% 4 years later. A significant negative correlation was observed between the age of the patients and the HbF value (p < 0.05). No statistically significant differences were observed between the mean of hematological parameters in β+- and β°-thalassemia patients except for the mean HbF value which were 10.7 ± 6.9 and 15.9 ± 7.7% in β+- and β°-thalassemia, respectively (p < 0.05). The study indicated that β-thalassemia mutations in trans to the HbS mutation do not exert any beneficial effect on the manifestat

ISSN:0001-5652    

DOI:10.1159/000154404

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

Population genetic studies are mainly based on the description of genetic variability and on interpopulational comparisons using genetic distance measures. The evolutionary dynamics of the populations are inferred from these parameters and accurate estimates of gene flow may be critical. The present study reevaluates the role of gene flow in human populations by different statistical methods from a number of microsatellite and protein polymorphism data. The estimated number of individuals exchanged per generation (Nm) was greater than 1 in all data sets with all statistical methods. The correlation between geographic and genetic distances suggests a pattern of isolation by distance, characteristic of demographic and genetic equilibrium conditions among populations worldwide. Thus the high values of Nm may be interpreted as a reflection of high gene flow between geographically close populations. As expected, gene flow appears to exert a pivotal role in the genetic history of humans.

ISSN:0001-5652    

DOI:10.1159/000154405

出版商:S. Karger AG    

年代:1997

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154406

出版商:S. Karger AG    

年代:1997

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154407

出版商:S. Karger AG    

年代:1997

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000154408

出版商:S. Karger AG    

年代:1997

数据来源: Karger