Polymorphism of Microsatellite Markers on Human Sex Chromosomes and analysis of mutation rate in the same individual.

点击翻译按钮获取中文摘要

Microsatellite markers on human sex chromosomes have not extensively been studied to date.We characterized polymorphic features of microsatellites on human X and Y chromosomes as follows .1) Genomic DNA specimens were prepared from blood samples collected from individuals randomly selected from 200 Japanese and 111 German populations.Microsatellite markers DYS388, DYS390, DYS391, DYS392 and DYS393 had 8, 7, 5 and 10 polymorphic alleies, respectively.Among them, DYS388, DYS391, DYS392 and DYS393 were inadquate as polymorphic markers for use in forensic medicine, since allele frequencies were not evently distributed at these loci resulting in less sufficient heterozygosity.2) The distribution of DYS390 in the Japanese population was impartial and useful for personal identification.3) Regardins STRs on X chromosomes, DNA samples from patients with several X-linked diseases were tested for a possible association with a STRs obtained in the previous study.4) Based on allele frequencies of STRs on Y chromosomes obtained in the previous study, polymorphic disversity of microsatellite at several loci of Y chromosomes were tested for potential usefulness in distinguishing individuals suspected of a sex crime on for determing blood relationship with regand to specific male DNA samples, DYS390 showed heterozygosity at respective loci sufficient for distinguishing individuals.5) The allelic mutation was found 11 cases of 25 uterine cancers in the same individual.6) Androgen receptor (AR) showed higher mutation rate than other markers of Y chromosome.