Allele frequencies of dinucleotide repeat marker loci on the X chromosome in the Japanese population

The allele frequencies of 18 dinucleotide repeat marker loci on the X chromosome have been analyzed in 130 Japanese individuals living in Kanagawa by means of multiplex PCR and the ABI PRISM Linkage Mapping Set MD 10 Panel 28, followed by capillary electrophoresis using the ABI PRISM 310 Genetic Analyzer.     

Maine Caucasian population DNA database using twelve short tandem repeat loci

A population study of Caucasians residing in Maine was conducted using the AmpF1STR Profiler PCR Amplification Kit and the AmpF1STR Profiler Plus PCR Amplification Kit (Applied Biosystems Division (ABD) of Perkin Elmer, Foster City, CA). The kits contain the reagents necessary to amplify 12 different STR loci and the gender marker Amelogenin using two multiplex PCR, each containing nine STR loci. Thus, there is an overlap of six STR loci. The 12 STR loci are TH01, TPOX, CSF1PO, D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, and D7S820. These loci represent 12 of the 13 core loci selected by the CODIS STR standardization project. Dye-labeled amplification products were separated and detected using the capillary electrophoresis instrument ABI Prism 310 Genetic Analyzer. Allele frequencies were determined for the 12 STR loci. Statistical analysis of the data included Hardy-Weinburg equilibrium (HWE) analysis, pairwise independence testing, power of discrimination (PD), and probability of exclusion (PE).     

DNA typing of short tandem repeat loci on Y-chromosome of Greek population

Haplotype, allele frequencies and population data of nine Y-chromosome STR loci, DYS385I, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, were determined from a sample of 69 unrelated Greek male individuals.     

Association between LDLR polymorphism and diseases in the Japanese population: aging and distribution of the polymorphism

A number of DNA polymorphisms have been found to be associated with the pathophysiology of some common disease. If the LDLR polymorphism is directly or indirectly related to some fatal disease, the distribution of the polymorphism may vary with age. We therefore investigated the aging-associated distribution of the LDLR polymorphism. Blood samples were collected from Japanese cadavers (aged 0-91) at autopsy. The LDLR polymorphism was detected using a AmpliType PM PCR Typing kit. When the LDLR genotype was examined in cadavers divided according to age into 0-29 year group, 30-59 year group, and 60-91 year group, there were significant differences in genotype among the three age groups and between the 0-29 year group and 60-91 year group. The LDLR-A genotype tended to be lower in the older cadavers. The present study revealed that there were aging-dependent differences in the distribution of the LDLR polymorphism in autopsy samples, suggesting that a common mutation involved in the occurrence of fatal diseases may be present near the LDLR-A polymorphism locus.     

北京汉族群体线粒体DNA高变区的多样性

应用ＰＣＲ产物直接测序法研究北京汉族 10 0名无关个体线粒体ＤＮＡ序列特征 ,并对其进行统计学分析 ,现报道如下。1　材料与方法1 1　材料1 1 1　样本　无关个体血液样本 10 0份 ,取自本实验室日常办案的检材。1 1 2　引物　对ＨＶⅠ、ＨＶⅡ及其周围区域 ,根据Ａｎｄｅｒｓｏｎ[1] 序列 ,并参考文献 [2 ]自行设计引物。引物序列 (由ＧＩＢＩＣＯＬ公司合成 )为 :ｍｔ 1Ｈ5′ ＧＡＡＴＣＧＧＡＧＧＡＣＡＡＣＣＡＧＴＡＡＧ 3′Ｌ 5′ ＴＡＧＣＧＧＴＴＡＴＴＡＴＡＧＧＧＴ 3′ ;ｍｔ 0Ｈ5′ ＣＡＴＧＧＧＧＡＡＧＣＡＧＡＴＴＴＧ 3′…     

Interpretation of repeat measurement DNA evidence allowing for multiple contributors and population substructure

Due to the circumstances in some forensic cases, very small amounts of DNA (<100 pg) may be obtained. This, in turn, may affect the reliability of the PCR process, and so it may be advisable to repeat the amplification process for confirmatory purposes. Gill et al. [Forensic Sci. Int. 112 (2000) 17] proposed a method for the statistical evaluation of the PCR replicate information. In this paper we formalize the method proposed by Gill et al. [Forensic Sci. Int. 112 (2000) 17], and extend it to allow for cases involving mixed stains and for population substructure.     

Sequence polymorphism of mitochondrial D-loop DNA in the Taiwanese Han population

In order to demonstrate the sequence diversity of mitochondrial D-loop DNA in the Taiwanese Han population, we established a database of 155 unrelated individuals. For each individual, the complete 980bp DNA region from the 5' end of HVI to 3' end of HVII segment was sequenced. In these 155 sequence data, 149 different haplotypes were observed, amongst these haplotypes, 144 were unique, 4 were found in 2 individuals and 1 was found in 3 individuals. When compare to the Anderson sequence, 144 transitions, 24 transversions, 5 insertions and 5 deletions were found. Eight positions exhibited more than one polymorphic sequence, six exhibited two variants while two exhibited three variants. Over the 1024bp that was analysed, pairwise differences between the sequences were 11.35+/-3.53bp. The sequence and nucleotide diversity were 0.9994 and 0.0116, respectively. The probability of two individuals randomly matching over the entire control region was 0.007. The diversity in the mitochondrial D-loop indicates the value of this locus for casework within Taiwan.     

Results of collaborative study regarding the standardization of the Y-linked STR system DYS385 by the European DNA Profiling (EDNAP) group.

Y-chromosome linked short tandem repeat (STR) loci are inherited as a closely linked haplotype, which appears to remain stable in a given paternal lineage over many generations. In forensic cases, Y-linked STRs are particularly useful for the identification of human remains as well as in rape cases with mixed male/female stain samples. DYS385 is derived from tandemly duplicated segments of the Y chromosome thus giving rise to two fragments of variable length which do not behave like alleles but genotypes. The European DNA Profiling (EDNAP) group has carried out a collaborative exercise among 14 participating laboratories using DYS385 for typing of five unknown bloodstains and a control sample. Furthermore, population data from eight different European countries with samples sizes between 91 and 150 male individuals were collected. The results confirm previous observations that DYS385 is one of the most informative Y-linked STR loci. It could also be demonstrated that reproducible results can be obtained independently from the electrophoretic separation and detection methods used. Thus DYS385 may serve as a useful complementation to the routinely used autosomal STR systems in special cases.     

Multiplex DNA typing of short tandem repeat loci on Y chromosome of Chinese population in Taiwan

Allele frequencies and haplotypes for ten Y chromosome STRs loci, namely, DYS19, DYS385 I, DYS385 II, DYS388, DYS389 I, DYS389 II, DYS390, DYS391, DYS392 and DYS393 were obtained from a sample of 582 Chinese individuals in Taiwan.     

Multiplex DNA typing of short tandem repeat loci on Y chromosome of Chinese population in Taiwan

Allele frequencies and haplotypes for ten Y chromosome STRs loci, namely, DYS19, DYS385 I, DYS385 II, DYS388, DYS389 I, DYS389 II, DYS390, DYS391, DYS392 and DYS393 were obtained from a sample of 582 Chinese individuals in Taiwan.     

Y-chromosomal STR haplotype in the Japanese population.

Allele and haplotype frequencies of seven Y-chromosome STR loci from samples of 108 unrelated Japanese males living in Aichi Prefecture.     

Mitochondrial DNA control region polymorphism in the population of Alagoas state, north-eastern Brazil

The sequences of the two hypervariable (HV) segments of the mitochondrial DNA (mtDNA) control region were determined in 167 randomly selected, unrelated individuals living in the state of Alagoas, north-eastern Brazil. One hundred and forty-five different haplotypes, associated with 139 variable positions, were determined. More than 95% of the mtDNA sequences could be allocated to specific mtDNA haplogroups according to the mutational motifs. Length heteroplasmy in the C-stretch HV1 and HV2 regions was observed in 22 and 11%, respectively, of the population sample. The genetic diversity was estimated to be 0.9975 and the probability of two random individuals presenting identical mtDNA haplotypes was 0.0084. The most frequent haplotype was shared by six individuals. All sequences showed high-quality values and phantom mutations were not detected. The diversity revealed in the mitochondrial control region indicates the importance of this locus for forensic casework and population studies within Alagoas, Brazil.     

DNA short tandem repeat profiling of three North Indian populations.

Population: Fifty healthy unrelated individuals were randomly chosen from each of the three populations viz., Bhargavas, Chaturvedies, and Brahmins. Three generation pedigree charts were prepared to ensure sirname endogamy in Bhargavas Chaturvedies and group endogamy in Brahmins subjects were chosen from several parts of Uttar Pradesh, a northern state of the Indian republic.     

Genetic polymorphism of human C1R subcomponent of the first complement component in the Japanese population

Genetic polymorphism of the C1R subcomponent of human complement component C1 has been investigated in neuraminidase treated EDTA plasma samples of 440 healthy Japanese individuals living in Tokyo by means of thin-layer polyacrylamide gel isoelectric focusing (PAGIEF) at pH 3.5-9.5 in the presence of 8.0 M urea followed by an electroblotting with enzyme immunoassay. Three common and three rare alleles were detected in the Japanese population. Of these, two common alleles were identical to C1R*1 and C1R*2 and other new alleles were tentatively designated C1R*3, C1R*4, C1R*5 and C1R*6, respectively. The results of the family studies suggested that the genetic model for C1R polymorphism assumed autosomal codominant Mendelian inheritance. The allele frequencies were estimated as C1R*1 = 0.4216, C1R*2 = 0.3602, C1R*3 = 0.2068, C1R*4 = 0.0091 and C1R*R(C1R*5 and C1R*6) = 0.0023, respectively. The distribution of allotypes fitted the Hardy-Weinberg equilibrium. The C1R system provides a useful genetic marker for human genetics, anthropologic studies and forensic science.     

Polymorphism of eight X-chromosomal STRs in a Japanese population

Eight X-chromosomal short tandem repeat (X-STR) markers were analyzed in 258 unrelated Japanese (144 males and 114 females) using Mentype^® Argus X-8 PCR Amplification Kit (Biotype AG) which contains DXS7132, DXS7423, DXS8378, DXS10074, DXS10101, DXS10134, DXS10135 and HPRTB. The DXS10135 locus proved to be highly polymorphic marker (PIC: 0.945) and the DXS7423 showed the lowest value (PIC: 0.453). The exact test for genotype distribution showed no significant deviation from the Hardy-Weinberg equilibrium.     

Turkish population data with the CODIS multiplex short tandem repeat loci.

Allele frequencies for 13 tetrameric short tandem repeat (STR) loci, CSF1PO, D18S51, D3S1358, D21S11, D5S818, FGA, D7S820, HUMTH01, D8S1179, TPOX, D13S317, VWA, and D16S539 were determined on 198 Turkish blood samples.