Polymorphism and Genetic Instability of Microsatellite Markers on Human Sex Chromosomes.

人类性染色体上的微卫星标记迄今尚未得到广泛研究。我们对人类X和Y染色体上微卫星多态性特征进行了如下表征：1）从日本和德国人群中随机选择个体，从血液样本中制备基因组DNA样本。微卫星标记DYS 388、DYS 389、DYS 390、DYS 391、DYS 392和DYS 393分别有6、10、8、10、6和6个多态性等位基因。其中，DYS 388、DYS 391、DYS 392和DYS 393不适合作为法医学应用的多态性标记，因为这些位点的等位基因频率分布不均匀，导致杂合性不足。DYS 384具有多达20个等位基因，并且被发现不是Y染色体的特异性标记，因为作为模板的女性DNA产生DYS 384的PCR产物，并且来自一些个体的男性DNA也产生相当于两个等位基因的量的产物。2)关于X染色体上的STR， ...更多信息 根据先前研究中获得的这些SIRs的等位基因频率，检测患有几种X连锁疾病的个体与特定遗传不稳定微卫星标记的可能关联。事实上，我们可以将一个特定的遗传不稳定的微卫星标记与一种感兴趣的疾病联系起来。3)基于先前研究中获得的Y染色体STR基因座的等位基因频率，检测了Y染色体上几个微卫星位点的多态性多样性，以确定特定男性DNA样本在区分性犯罪嫌疑人或确定血缘关系方面的潜在有用性。DYS 390和DYS 389 -1在各自的lad上表现出足够的杂合性以区分个体。4)我们发现，在DYS 388基因座和DYS 392基因座，分别在日本人口和其他亚洲人群，包括中国，蒙古，和少数民族在台湾（阿美族）的数据进行比较时，在本研究中从日本人口与其他亚洲人群，这是在文献数据库中。这些结果将提供一个独特的框架，确定日本特定的多态性遗传标记在这些位点。这些发现对于研究亚洲人种迁移和从Y染色体变异角度研究日本人种起源具有重要意义。少

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 Japanese and German populations. Microsatellite markers DYS388, DYS389, DYS390, DYS391, DYS392, and DYS393 had 6, 10, 8, 10, 6, and 6 polymorphic alleles, respectively. Among them, DYS388, DYS39l, DYS392, and DYS393 were inadequate as polymorphic markers for use in forensic medicine, since allele frequencies were not evenly distributed at these loci resulting in less sufficient heterozygosity. DYS384 had as many as 20 alleles and was found not to be a specific marker of Y chromosome, since female DNA as a template yielded PCR products of DYS384 and male DNA from some individuals also yielded products in an amount equivalent to two alleles. 2) Regarding STRs on X chromosomes, DNA samples from pat … More ients with several X-linked diseases were tested for a possible association with a particular genetically unstable microsatellite marker based on allele frequencies of these SIRs obtained in the previous study. Indeed, We could link a particular genetically unstable microsatellite marker to a disease of interest. 3) Based on allele frequencies of STRs on Y chromosomes obtained in the previous study, polymorphic diversity of microsatellite at several loci of Y chromosome were tested for potential usefulness in distinguishing individuals suspected of a sex crime or for determining blood relationship with regard to specific male DNA samples. DYS390 and DYS389-1 showed heterozygosity at respective lad sufficient for distinguishing individuals. 4) We found significant allele frequency variations at DYS388 locus and DYS392 locus, respectively, between Japanese population and other Asian populations including Chinese, Mongolian, and the minority race in Taiwan (Ami tribe) when data obtained from the Japanese population in the present study were compared with those from other Asian populations, which were available in the literature database. These results will provide a unique framework for identifying Japanese specific polymorphic genetic markers at these loci. These finding should be useful for population study on racial migration in Asia and the origin of Japanese race in terms of Y chromosome variation. Less