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Y-chromosome short tandem repeat (STR) haplotypes in a Campania population sample.

Given the lack of information about Y haplotypes for Campania (southern Italy), we analyzed eight Y short tandem repeats in a sample of males from this region with the aim of establishing a Y-haplotype database that can be used for forensic purposes. The eight Y short tandem repeats were amplified by two PCR multiplex reactions: multiplex A for loci DYS19, DYS385, DYS392 and DYS393, and multiplex B for DYS389 I and II, DYS390, DYS391 and DYS385. The proportion of unique haplotypes was 100% (108 Y-chromosome haplotypes in 108 unrelated males) and the haplotype diversity discrimination index was 0.99. These data reflect the high heterogeneity of male lineage in our population and are similar to those obtained in other regions of southern Italy.

Chromosome Mapping↗

Allele frequency and its forensic application of STR Y27 in Korean males.

The allele frequency and mutation rate in a Short Tandem Repeat locus, Y27 were studied in 247 unrelated Korean males using polymerase chain reaction followed by high-resolution polyacrylamide gel electrophoresis, a procedure called the amplification fragment length polymorphism technique. Six alleles were noted ranging from 190 bp to 210 bp. They existed as discrete bands with 4 bp discrepancy. Among which DY3(198 bp), DY4(202 bp) were common with the frequencies of 0.408, 0.356 respectively. Other alleles, DY1(190 bp, frequency 0.020), DY2(194 bp, frequency 0.121), DY5(206 bp, frequency 0.089), DY6(210 bp, frequency 0.004) were relatively uncommon. In a 78 subject father-son study with parenthood confirmed through other genetic studies, no case of mutation was noted. As the allele number was not as large as 6 and two alleles were dominant, the discrimination power in routine individual identification was thought to be low. But in selective cases such as father-son determination or sex determination, this locus could be a valuable genetic marker and we thought these results to be common for the Korean population. These results were also compared with that of other race.

Alleles↗

Allele frequency distribution of the STR loci HUMTPOX, HUMTH01 and HUMVWA in Asturias (north Spain).

In order to use genetic loci in forensic identity testing, some population data are needed. This paper presents a report of allele frequency data for the loci HUMTH01, HUMTPOX and HUMVWA in a population sample from Northern Spain. No deviation from the Hardy-Weinberg equilibrium was detected in any of the three markers investigated and there was no evidence of association between the alleles of these loci. Statistical analysis was also carried out to obtain some parameters of medicolegal interest and comparative studies were carried out with other populations studied to date for these five loci. The Asturian sample does not differ substantially from other Caucasian and Spanish populations.

Alleles↗

Allele and genotype frequencies for the STR locus D18S51 in a western German population.

Genetic marker typing based on DNA amplification by the polymerase chain reaction (PCR) increasingly is being employed in forensic casework and for paternity testing. Allele frequencies were determined using PCR for 102 unrelated Germans (Rhine area) for the locus D18S51. Twelve alleles were observed, with frequencies ranging from 0.005 (allele 11) to 0.191 (allele 14). The observed heterozygosity was 0.867, and the power of discrimination was 0.968. There was no deviation from expectations under Hardy-Weinberg assumptions (P = 0.451).

Gene Frequency↗

STR HUMARA locus gene and genotype frequencies in Han and Bei populations in China.

For the purpose of the population genetics study of the HUMARA locus, the allele, and genotype frequencies were determined in two Chinese population samples (Han-101, Bei-113) using PCR, PAGE, and silver staining. Fourteen alleles were found. The size of amplified fragments were 258 bp-315 bp. The observed heterozygosities were 0.83 in the Han population and 0.73 in the Bei population respectively. The expected heterozygosities were 0.91 in the Han population and 0.97 in the Bei population respectively. Both populations meet Hardy-Weinberg expectation, Han population x2 = 17.7206, df = 11, p > 0.05; Bei population x2 = 7.4268, df = 10, p > 0.05. The discrimination power were 0.95 in females and 0.89 in males in the Han population, 0.94 in females and 0.88 in males in the Bei population. Thus, the allelic frequency data can be used in the personal identification and parentage testing in the forensic science practice. The PCR test established in this study is robust and reproducible.

Alleles↗

STR allelic frequencies in a German skeleton collection.

Chromosomal DNA was isolated from bones from a German skeleton collection (Goslar, 18th century) and detected by PCR. Nine microsatellite regions were amplified by multiplex reactions using the AmpFlSTR Profiler Plus kit and analysed to obtain their allelic distribution. A statistical evaluation of the results revealed no allelic differentiation between the historic sample and a modern German one at each locus.

Alleles↗