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

人类性染色体微卫星标记多态性及同一个体突变率分析。

基本信息

批准号：
11670405
负责人：
SHIONO Hiroshi
金额：
$ 2.5万
依托单位：
Asahikawa Medical College
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
1999
资助国家：
日本
起止时间：
1999 至 2000
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-11670405/
关键词：
sex chromosome microsatellite allele distribution mutation rate

项目摘要

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.

迄今为止，人类性染色体上的微卫星标记尚未得到广泛的研究。我们描述了微卫星在人类X和Y染色体上的多态性特征如下。1)从200个日本人群和111个德国人群中随机抽取血样，制备基因组DNA标本。微卫星标记DYS388、DYS390、DYS391、DYS392和DYS393分别有8个、7个、5个和10个多态性位点。其中，DYS388、DYS391、DYS392和DYS393位点的等位基因频率分布不均匀，杂合性不足，不适合作为法医学上的多态性标记。2) DYS390在日本人群中的分布是公正的，可用于个人鉴定。3)关于X染色体上的STRs，我们检测了几种X连锁疾病患者的DNA样本，以寻找与先前研究中获得的STRs的可能关联。4)基于前期研究中获得的Y染色体STRs等位基因频率，对Y染色体多个位点的微卫星多态性多样性进行了检测，以确定其在性犯罪嫌疑人中的潜在用途。对于特定的男性DNA样本，DYS390在各自的位点上显示了足以区分个体的杂合性。5)在同一个体25例子宫癌中发现11例等位基因突变。6)雄激素受体（AR）的突变率高于Y染色体其他标记。