男性不育患者Y染色体AZF区域STS微缺失位点多重PCR法检测及其意义  

Multiplex PCR method detection of STS microdeletion sites in AZF region of Y chromosome in male infertility patients and its significance

作　　者：冯乔[1] 王曼伊 于鸿浩 李君 曾丹 侯任[3] FENG Qiao;WANG Manyi;YU Honghao;LI Jun;ZENG Dan;HOU Ren(Laboratory of Genetic and Precision Medicine,Affiliated Hospital,Guilin Medical College,Guilin 541001,China;Department of Cell and Genetics,School of Biotechnology,Guilin Medical College,Guilin 541100,China;Department of Eugenics and Genetics,Affiliated Hospital,Guilin Medical College,Guilin 541001,China)

机构地区：[1]桂林医学院附属医院遗传与精准医学实验室,广西桂林541001 [2]桂林医学院生物技术学院细胞与遗传学教研室,广西桂林541100 [3]桂林医学院附属医院优生遗传科,广西桂林541001

出　　处：《吉林大学学报（医学版）》2023年第5期1262-1267,共6页Journal of Jilin University：Medicine Edition

基　　金：国家自然科学基金项目(32160147);广西壮族自治区卫健委自筹经费科研项目(Z20211402)。

摘　　要：目的:探讨Y染色体无精子症因子(AZF)区域的15个标签位点(STS)序列片段微缺失位点与男性不育(MI)的关系,为干预遗传性MI提供依据。方法:选择2 586例疑似MI患者作为研究对象,按照年龄分为≤20岁组(14例)、21~30岁组(988例)、 31~40岁组(1 318例)和≥41岁组(266例)。采用聚合酶链式反应(PCR)法对Y染色体AZF区域的15个STS序列片段进行检测并筛选异常结果,比较各组MI患者Y染色体微缺失情况。结果:在2 586例参检人群样本中发现207例Y染色体异常,占总体样本的8.00%;其中≤20岁组、21~30岁组、31~40岁组和≥41岁组检出Y染色体异常率分别为7.14%(1/14)、8.10%(80/988)、8.04%(106/1 318)和7.52%(20/266);各组患者基础位点合并扩展位点的缺失率比较差异有统计学意义(χ^(2)=10.836,P=0.013),21~30岁组患者基础位点合并扩展位点的缺失率明显高于31~40岁组(P<0.05);在总体受检样本中,发生基础位点片段缺失者52例,异常率为2.01%,各组患者异常率比较差异有统计学意义(χ^(2)=9.658,P=0.022);AZFc片段缺失者占所有受检人数1.39%,21~30岁组和31~40岁组患者AZFc缺失率明显高于≥41岁组(P<0.05),21~30岁组和31~40岁组患者总体缺失率比较差异有统计学意义(χ^(2)=3.612, P=0.040);各组患者sY127、 sY134合并sY105、 sY121、 sY1192、 sY153和sY160位点缺失率比较差异无统计学意义(P>0.05),各组患者sY254、sY255合并sY105、sY121、sY1192、sY153和sY160位点缺失率比较差异无统计学意义(P>0.05)结论:广西壮族自治区东北部地区主要生育年龄段男性Y染色体异常的主要原因是sY1192和sY153位点微缺失,其中以sY1192位点微缺失为主,且随着年龄增长,该位点突变检出率越高。Objective:To discuss the relationship between microdeletions of 15 sequence tagged sites(STS)in azoospermia factor(AZF)region of the Y chromosome and male infertility(MI),and to provide the evidence for the intervention of hereditary MI.Methods:A total of 2586 suspected MI patients were selected,and they were divided into four groups according to their ages,≤20 years old group(14 cases),21—30 years old group(988 cases),31—40 years old group(1318 cases),and≥41 years old group(266 cases).The polymerase chain reaction(PCR)method was used to detect the 15 STS sequence fragments in the Y chromosome AZF region and the abnormal results were screened out.The microdeletion status of the Y chromosome was compared among the MI patients in various groups.Results:Among 2586 samples,207 cases of Y chromosome abnormalities were found,accounting for 8.00%(207/2586)of the total samples.The Y chromosome abnormalit rates of the somples in≤20 years old,21—30 years old,31—40 years old,and≥41 years old groups were 7.14%(1/14),8.10%(80/988),8.04%(106/1318),and 7.52%(20/266),respectively;there were significant differences in the detetion rates of base sites and extension sites of the patients between various groups(χ^(2)=10.836,P=0.013),and the deletion rate of base sites and extension sites of the patients in 21—30 years old group was higher than that in 31—40 years old group(P<0.05).In the overall tested samples,52 cases of base site fragment deletion were found,the abnormality rate was 2.01%,and there were significant differences in the abnormality rates of the patients between various groups(χ^(2)=9.658,P=0.022).The deletion rate of the AZFc segment accounted for 1.39%of all tested individuals,and the deletion rates of the patients in 21—30 years old group and 31—40 years old group were significantly higher than that in≥41 years old group(P<0.05).There were significant differences in the overall deletion rates of the patients between 21—30 years old and 31—40 years old groups(χ^(2)=3.612,P=0.040).The

关 键 词：男性不育 Y染色体 微缺失位点 标签位点 无精子症因子 

分 类 号：R394.1[医药卫生—医学遗传学]