遗传 ›› 2019, Vol. 41 ›› Issue (3): 243-253.doi: 10.16288/j.yczz.18-235

• 研究报告 • 上一篇    下一篇

Y染色体微缺失人群中Y-STR等位基因缺失模式分析

王燕超,马晓燕,孙筱放,冼嘉嘉,李少英,何文智,王晓蔓,黎青()   

  1. 广州医科大学附属第三医院妇产科研究所实验部,广东省普通高校生殖与遗传重点实验室,广州 510150
  • 收稿日期:2018-10-09 修回日期:2018-12-25 出版日期:2019-01-14 发布日期:2019-01-14
  • 通讯作者: 黎青 E-mail:81292522@163.com
  • 作者简介:王燕超,硕士研究生,技师,研究方向:分子遗传学。E-mail: wycsusan12@163.com
  • 基金资助:
    广东省科技计划项目资助(2016A20214011)

Alleles dropout patterns of Y-short tandem repeats in infertile males with Y chromosome microdeletions

Yanchao Wang,Xiaoyan Ma,Xiaofang Sun,Jiajia Xian,Shaoying Li,Wenzhi He,Xiaoman Wang,Qing Li()   

  1. Institute of Obstetrics and Gynecology, the Third Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Guangzhou, Guangdong 510150, China
  • Received:2018-10-09 Revised:2018-12-25 Online:2019-01-14 Published:2019-01-14
  • Contact: Li Qing E-mail:81292522@163.com
  • Supported by:
    Supported by Science and Technology Planning Project of Guangdong Province(2016A20214011)

摘要:

Y染色体短串联重复序列(Y-short tandem repeats, Y-STRs)已被广泛应用到DNA检验领域。然而,由于Y染色体存在较高的结构突变率,可能会导致部分Y-STR等位基因丢失甚至产生特殊的缺失模式,从而影响其在法医学中的应用。位于Y染色体长臂的无精子症因子(azoospermia factor, AZF)与精子发生有关,该区域微缺失可导致不育症。然而Y染色体微缺失人群是否存在特殊的Y-STR缺失模式仍有待研究。本文利用法医学上常用17个Y-STR探讨了85例Y染色体微缺失患者的Y-STR缺失模式。结果显示,单纯AZF a区缺失样本,均存在DYS439-DYS389I-DYS389II基因座无效扩增情况;单纯AZF b区或单纯AZF c区缺失样本存在DYS448基因座无效扩增;复合AZF b+c+d区缺失样本存在DYS385-DYS392-DYS448基因座无效扩增;复合AZF a+b+c+d区缺失样本存在DYS390-Y-GATA-H4-DYS385- DYS392-DYS448基因座无效扩增。因此,本研究结果提示Y-STR缺失模式与Y染色体微缺失有对应关系。

关键词: Y染色体微缺失, AZF缺失, Y-STR等位基因缺失, 不育症

Abstract:

Y chromosomal short tandem repeat (Y-STR) typing is the most commonly used genetic technique in forensic studies. However, there may be a limit to the application of Y-STR in forensic science as Y-STR loci are subject to loss or variation caused by the higher chromosomal structures’ spontaneous mutation rate. Located in the long arm of the Y chromosome, azoospermia factor (AZF) have been shown to participate in spermatogenesis and its deletion could cause infertility. However, little is known about the Y-STR dropout pattern in individuals with Y chromosome microdeletions. In this study, 85 infertile males with Y chromosome interstitial deletion were identified and special Y-STR allele dropout patterns were analyzed by employing a Y-STR Commercial Kit and a Y chromosome Deletion Kit. Results demonstrate that AZF a region deletion are related to DYS439-DYS389I-DYS389II alleles dropout, while AZF b region or c region deletions correlate to DYS448 allele dropout. Null DYS385-DYS392-DYS448 alleles were observed in AZF b+c+d region deletion individuals. While null DYS390-Y-GATA-H4-DYS385-DYS392-DYS448 alleles were observed in AZF a+b+c+d large region deletion individuals. Our data suggest that Y chromosome microdeletions may indicate specific Y-STR locus dropout patterns.

Key words: Y chromosomal microdeletions, AZF deletion, Y chromosomal short tandem repeats alleles dropout, infertility