吉林大学学报(医学版) ›› 2023, Vol. 49 ›› Issue (5): 1262-1267.doi: 10.13481/j.1671-587X.20230520

• 临床研究 • 上一篇    

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

冯乔1,王曼伊1,于鸿浩2,李君1,曾丹1,侯任3()   

  1. 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
  • 收稿日期:2023-01-25 出版日期:2023-09-28 发布日期:2023-10-26
  • 通讯作者: 侯任 E-mail:20150517@qq.com
  • 作者简介:冯 乔(1987-),男,吉林省长春市人, 主管技师,主要从事男性不育的遗传学分析方面的研究。
  • 基金资助:
    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)

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

Qiao FENG1,Manyi WANG1,Honghao YU2,Jun LI1,Dan ZENG1,Ren HOU3()   

  1. 1.Laboratory of Genetic and Precision Medicine,Affiliated Hospital,Guilin Medical College,Guilin 541001,China
    2.Department of Cell and Genetics,School of Biotechnology,Guilin Medical College,Guilin 541100,China
    3.Department of Eugenics and Genetics,Affiliated Hospital,Guilin Medical College,Guilin 541001,China
  • Received:2023-01-25 Online:2023-09-28 Published:2023-10-26
  • Contact: Ren HOU E-mail:20150517@qq.com

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(χ2=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(χ2=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(χ2=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。

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

Abstract:

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 2 586 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(1 318 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 2 586 samples, 207 cases of Y chromosome abnormalities were found, accounting for 8.00% (207/2 586) 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% (106/1 318), 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 (χ2=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 (χ2=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(χ2=3.612,P=0.040). There were no statistically significant differences in the deletion rates of the sY127, sY134 combined with sY105, sY121, sY1192, sY153, and sY160 sites of the patients between various groups (P>0.05),and there were no significant differences in the deletion rates of the sY254, sY255 combined with sY105, sY121, sY1192, sY153, and sY160 sites of the patients between various groups (P>0.05). Conclusion The main cause of Y chromosome abnormalities of the males in reproductive age group in Northeast of Guangxi Zhuang Autonomous Region is microdeletion at the sY1192 and sY153 sites, and the sY1192 site microdeletion is the most prevalent. The detection rate of mutation at this site is increased with the increasing of age.

Key words: Male infertility, Y chromosome, Microdeletion site, Tag site, Azoospermia factor

中图分类号: 

  • R394.1