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

人类性染色体上的微卫星标记迄今还没有得到广泛的研究。我们研究了人类X和Y染色体上的微卫星的多态性特征如下：1)随机从200名日本人和111名德国人的血液标本中提取基因组DNA。微卫星标记DYS388、DYS390、DYS391、DYS392和DYS393分别有8、7、5和10个多态位点。其中DYS388、DYS391、DYS392和DYS393是用于法医学鉴定的不合格的多态标记。由于这些基因座上的等位基因频率分布不均匀，导致不够充分的杂合性。2)DYS390在日本人群中的分布是公正的，有助于个人身份识别。3)X染色体上的Regardins STR，检测了来自几种X连锁疾病患者的DNA样本与先前研究中获得的STR的可能关联。4)基于先前研究中获得的Y染色体上的STR的等位基因频率，测试了Y染色体上几个基因座上的微卫星的多态多样性，以潜在地用于区分涉嫌与REGY血缘关系的性犯罪个人和特定的男性DNA样本，DYS390在同一个体的25例子宫癌中发现11例等位基因突变。6)雄激素受体(AR)基因突变率高于Y染色体的其他标记。

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.