不孕不育及不良孕产人群异常染色体核型分析  

Analysis of abnormal chromosome karyotype in infertility and poor pregnancy and childbirth

作　　者：王蕊 范晓宇 查斌斌[2] 张帅[2] 冯强[2] 李毅[2] WANG Rui;FAN Xiaoyu;ZHA Binbin;ZHANG Shuai;FENG Qiang;LI Yi(Department of Obstetrics and Gynecology,Xinwen Central Hospital of Shandong Guoxin Yiyang Group,Xintai 271219,China;Department of Laboratory,Taian Central Hospital,Taian 271000,China)

机构地区：[1]山东颐养健康集团新汶中心医院妇产科,山东新泰271219 [2]泰安市中心医院检验科,山东泰安271000

出　　处：《山东第一医科大学（山东省医学科学院）学报》2022年第3期193-197,共5页Journal of Shandong First Medical University ＆ Shandong Academy of Medical Sciences

基　　金：国家自然科学基金(31200983);山东省医药卫生科技发展计划(2017WS598)。

摘　　要：目的通过研究泰安地区不孕不育及不良孕产人群的遗传病因学因素,探讨其遗传因素及染色体核型的主要类型分布情况,为本地不孕不育、不良孕产患者的诊断、治疗及辅助生殖提供有力的实验室依据,并分析泰安地区不孕不育、不良孕产患者的染色体异常分布特征。方法对2015年3月至2019年8月在泰安市中心医院就诊的年龄在22~48岁之间的3641例不孕不育及不良孕产患者的染色体核型进行提取、分类及分析。结果3641例不孕不育及不良孕产患者中检出异常染色体核型137例,检出率3.76%,其中常染色体异常99例,检出率2.72%,性染色体异常38例,检出率1.04%;染色体多态性418例,检出率11.48%。共提取不孕不育病史患者1286例,染色体核型异常50例,占3.89%,其中常染色体异常28例,占2.18%,性染色体异常22例,占1.71%;染色体多态性135例,占10.5%。共选取不良孕产病史患者2537例,染色体核型异常94例,占3.71%,其中常染色体异常78例,占3.07%,性染色体异常16例,占0.63%;染色体多态性296例,占11.68%。结论平衡易位是不孕不育、不良孕产常见的遗传因素;男性性染色体异常是导致男性精液异常的重要发病原因之一;染色体多态性可能与不孕不育、不良孕产有一定的关系。Objective:To discuss the genetic factors and the distribution of main types of chromosome karyotypes of infertility and poor pregnancy and childbirth population in Taian area by studying the genetic etiological factors of infertility and poor pregnancy and childbirth population in Taian area,and to provide a strong laboratory basis for the diagnosis,treatment and assisted reproduction of local infertility and poor pregnancy and childbirth patients,and to show the characteristics of infertility and childbirth in Taian area Distribution characteristics of chromosome abnormalities in patients with adverse pregnancy and childbirth.Methods:From March 2015 to August 2019,the karyotypes of 3 641 patients with infertility and adverse pregnancy and childbirth,aged between 22 and 48,who came to Tai’an Central Hospital for treatment,were extracted,classified and analyzed retrospectively.Results:137 cases of abnormal chromosome karyotypes were detected in 3 641 patients with infertility and adverse pregnancy and childbirth,with a detection rate at 3.76%,including 99 cases of autosomal abnormalities,with a detection rate at 2.72%,and 38 cases of sex chromosome abnormalities,with a detection rate at 1.04%;Chromosome polymorphism was detected in 418 cases,the detection rate was11.48%.A total of 1 286 patients with infertility history were extracted.Fifty cases of chromosome karyotype abnormalities were detected,accounting for 3.89%,including 28 cases of autosomal abnormalities,accounting for 2.18%,and 22 cases of sex chromosome abnormalities,accounting for 1.71%;Chromosome polymorphism was detected in 135 cases,accounting for 10.5%.A total of 2 537 patients with adverse pregnancy and childbirth history were extracted.Ninety-four cases of chromosome karyotype abnormalities were detected,accounting for 3.71%,including 78 cases of autosomal abnormalities,accounting for 3.07%,and 16 cases of sex chromosome abnormalities,accounting for 0.63%;Chromosome polymorphism was detected in 296 cases,accounting for 11.68%.Conclusion:Balance

关 键 词：不孕不育 不良孕产 染色体核型分析 染色体多态性 

分 类 号：R711.6[医药卫生—妇产科学]