徐州地区部分人群Y染色体微缺失现状分析

Analysis of Y chromosome microdeletion status in some population in Xuzhou area

目的分析徐州地区部分人群Y染色体微缺失类型分布及其临床表征。方法将2018年1月至2021年8月在本科室进行Y染色体微缺失检测的男性患者408例纳入研究范围,采其外周血提取DNA,进行多重荧光PCR,必要时进行电泳分析及染色体微阵列分析(CMA)。结果共检出Y染色体微缺失39例,除去不符合研究要求1例,总缺失率为9.34%(38/407),缺失类型中AZFc、AZFa+b+c、AZFb+c、AZFb、AZFa sY86缺失率依次为57.89%(22/38)、18.42%(7/38)、15.79%(6/38)、5.26%(2/38)、2.63%(1/38)。缺失患者除精子异常、夫妻不孕不育为主要表现外,睾丸发育不良也占据较大比例。结论鉴于徐州地区发生Y染色体微缺失的概率相对偏高,建议将Y染色体微缺失检测纳入男性不育、精子异常、睾丸发育不良人群的临床检测首选项目。

Objective To analyze the distribution of Y chromosome microdeletion types and its clinical manifestations in Xuzhou area. Methods A total of 408 male patients who underwent Y chromosome microdeletion in our department from January 2018 to August 2021 were included in the study. Their peripheral blood was collected and DNA was extracted for multiple fluorescence PCR. Electrophoresis analysis and chromosome microarray analysis(CMA) were performed when necessary. Results A total of 39 cases of Y chromosome microdeletion were detected, and the total deletion rate was 9.34%(38/407), excluding 1 case that did not meet the research requirements. The deletion rate of AZFc, AZFa+b+c, AZFb+c, AZFb,AZFa sY86 were 57.89%(22/38), 18.42%(7/38), 15.79%(6/38), 5.26%(2/38) and 2.63%(1/38), respectively. In addition to sperm abnormalities and infertility in couples, testicular dysplasia also accounts for a large proportion of deletion patients.Conclusion In view of the relatively high probability of occurrence of Y chromosome microdeletion in Xuzhou, it is suggested that the detection of Y chromosome microdeletion should be included in the clinical detection of male infertility, abnormal sperm and testicular dysplasia.