Silver STR Ⅲ系统基因座中等位基因在葡萄胎基因组中的分布及其意义  

The alleles distribution of loci of Silver STRⅢ in complete hydatidiform moles and the genetic value.

作　　者：张小为[1] 朱浩彬[1] 武淑英[1] 高荣莲[1] 韩劲松[1] 王秀云[1] 郭红燕[1] 赵扬玉[1] 赵文秋[1] 李蓉[1] 

机构地区：[1]北京大学第三医院妇产科,北京100083

出　　处：《中国优生与遗传杂志》2006年第1期26-28,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金(39770769);北京大学医学部"十五""211工程"项目(肿瘤学科群508)基金资助

摘　　要：目的研究S ilver STR(Ⅲ系统3个基因座中各等位基因在葡萄胎基因组中的分布及潜在意义。方法对应用多重PCR和变性聚丙烯酰胺凝胶电泳技术鉴别出的39例遗传物质完全来自父方的完全性葡萄胎进行分析,统计S ilverSTR(Ⅲ系统3个基因座中各等位基因的出现率。结果在39例葡萄胎中,S ilver STR(Ⅲ系统的D16S539座位出现6个等位基因,D7S820座位出现5个等位基因,D13S317座位出现7个等位基因;D16S539座位中等位基因14出现率显著高于人群(P<0.05),D7S820座位中等位基因9出现率显著低于人群(P<0.01),其余各等位基因出现率与人群基因频率无显著差异;D16S539、D7S820和D13S317基因座位杂合度分别为0.1795,0.1282和0.1538;其中可追踪的23例良性葡萄胎中,D16S539出现6个等位基因,D7S820出现4个等位基因,D13S317出现7个等位基因;可追踪的7例侵袭性葡萄胎中,D7S820出现5个等位基因,D16S539与D13S317均出现4个等位基因,其中D16S539和D13S317座位的等位基因9出现率高于良性葡萄胎(P<0.01和P<0.05)。结论葡萄胎D16S539、D7S820和D13S317基因座位等位基因杂合度远低于人群杂合度;葡萄胎具有侵袭性与D16S539和D13S317座位的等位基因9出现率具有相关性。Objective：To investigate the alleles distribution of human D16S539 ,D7S820 and D13S317 loci in HMs and the relationship between invasive HM and alleles＇ types in these loci. Methods ： Multiple STR - PCR and silver stain were used to analyze the 39 complete HM（CHM） specimens to know the alleles frequency of the three loci in these cases. Results：At the D16S539, D7S820 and D13S317 loci,6,5 and 7 alleles occurred respectively in 39 CHM, and the heterozygosity rates were 0. 1795,0. 1282 and 0. 1538 respectively. In moles, the frequency the allele 14 at D16S539 and the 9 allele were higher and lower than that in Beijing population, respectively. At D16S539,D7S820 and D13S317 loci,there were 6,4 and 7 alleles and were 5,4 and 4,in 23 benign and in 7 invasive HM ,respectively. In invasive HM the 9 alleles＇ frequency of D16S539 and D13S317 were significantly higher than them in benign HM （ P 〈0. 01 and P 〈0. 05）. Conclusion：The heterozygosities of alleles in D16S539 ,D7S820 and D13S317 loci in HM were lower than those in the polulation,and the results indicated that the 9 alleles in D16S539 and D13S317 associated with invasive HM.

关 键 词：葡萄胎 侵袭性 STR 等位基因 

分 类 号：R737.33[医药卫生—肿瘤]