首页|贵州苗族非梗阻性无精男性3例的Y染色体微缺失及致病候选基因

贵州苗族非梗阻性无精男性3例的Y染色体微缺失及致病候选基因

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目的 研究贵州苗族无精症男性的Y染色体微缺失和致病候选基因突变.方法 本研究招募苗族非梗阻性无精症男性3人,使用目标区域捕获测序及全外显子测序,分析注释到相关基因区域,解析苗族无精症男性的Y染色体微缺失及致病候选位点.结果 3例苗族非梗阻性无精症患者中未发现Y染色体微缺失位点.全外显子测序结果发现USP9Y、CFTR、ZMYND15、DNAH1的突变位点,可能是苗族非梗阻性无精症的候选致病突变.结论 贵州苗族男性Y染色体微缺失阴性的非梗阻性无精症可能具有特异的基因致病突变位点,在男性不育研究及临床中应引起关注.
Y chromosome microdeletion and causative candidate genes in 3 cases of non-obstructive azoospermic males of Guizhou Miao ethnic group
Objective To study Y chromosome microdeletion and pathogenic candidate gene mutations in azoospermic males of the Miao ethnic group in Guizhou.Methods Three males of Miao ethnic group with non-obstructive azoospermia were recruited in this study.The relevant gene regions were analyzed and annotated using target region capture sequencing and whole exome sequencing to detect Y chromosome microdeletion and pathogenic candidate loci.Results No Y chromosome microdeletion loci were found in three cases of Miao non-obstructive azoospermia.Whole-exome sequencing results showed the mutation loci in USP9Y,CFTR,ZMYND15,and DNAH1,which may be candidate pathogenic mutations for non-obstructive azoospermia in Miao ethnic group.Conclusion Non-obstructive Guizhou Miao males with negative Y chromosome microdeletions may have specific azoospermia-causing genes,which should be concerned in male infertility research and clinical practice.

non-obstructive azoospermiaprimary sterilityY chromosome microdeletionwhole exome sequencingcausative mutations

张程、李鸿婧、谭宗建

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贵州省人民医院生殖医学科,贵阳 550001

非梗阻性无精症 原发不育 Y染色体微缺失 全外显子测序 致病突变

贵州省卫生计生委科技项目

gzwjkj2016-1-044

2024

山西医科大学学报
山西医科大学

山西医科大学学报

CSTPCD
影响因子:0.931
ISSN:1007-6611
年,卷(期):2024.55(3)
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