51057例患者外周血染色体核型与生殖异常关系的研究  

Relationship between chromosome karyotype of peripheral blood and abnormal reproductive outcomes in 51057 patients

作　　者：张晓翠 赵琼珍 伊江燕 孙雪梅 张雪萍 黄卫东 ZHANG Xiao-cui;ZHAO Qiong-zhen;YI Jiang-yan;SUN Xue-mei;ZHANG Xue-ping;HUANG Wei-dong(Jiayin Hospital,Urumqi 830001)

机构地区：[1]佳音医院,乌鲁木齐830001

出　　处：《生殖医学杂志》2023年第2期220-227,共8页Journal of Reproductive Medicine

基　　金：新疆维吾尔自治区社会办医疗机构协会“临床科研专项资金项目”(SHB202009)。

摘　　要：目的对51057例生殖异常患者进行外周血染色体核型分析,探讨染色体核型异常类型与生殖异常之间的关系。方法收集2005年1月至2021年7月于我院就诊的51057例生殖异常患者为研究对象,抽取外周血进行淋巴细胞培养,行常规染色体制片及G显带染色体核型分析。根据染色体数目异常和结构异常等分类方法分别统计,分析不同染色体异常核型与生殖异常之间的关系。结果共检出768例染色体核型异常患者(不包括染色体多态性),检出率为1.50%。常染色体异常共348例,占染色体异常核型的45.31%,检出率为0.68%;性染色体异常400例,占染色体异常核型的52.08%,检出率为0.78%;性反转共20例,占染色体异常核型的2.60%,检出率0.04%。共检出染色体多态性改变2274例,检出率约为4.45%。结论染色体异常是导致不孕不育等生殖异常的重要遗传因素之一,进行常规染色体核型分析有助于明确病因,并及时进行遗传咨询,以采取合理的干预措施。Objective:To analyze chromosome karyotypes of peripheral blood in 51057 patients with abnormal reproductive outcomes,and to explore the relationship between karyotype abnormalities and abnormal reproductive outcomes.Methods:The peripheral blood samples of 51057 patients with abnormal reproductive outcomes were collected in our hospital from January 2005 to July 2021 were collected as the research objects.The peripheral blood was collected for lymphocyte culture,and routine chromosome preparation and G-banding chromosome karyotype analysis were performed.According to the classification methods such as abnormal number of chromosomes and abnormal chromosome structure,the relationship between different chromosomal abnormal karyotypes and abnormal reproductive outcomes was analyzed.Results:A total of 768 patients with chromosomal karyotype number or structure abnormalities(excluding chromosome polymorphism)were detected,and the detection rate was 1.50%.A total of 348 patients with autosomal abnormalities,accounting for 45.31%of abnormal karyotypes,with a detection rate of 0.68%.Four hundred patients of sex chromosome abnormalities,accounting for 52.08%of abnormal karyotypes,with a detection rate of 0.78%.Twenty patients with sex inversion,accounting for 2.60%of abnormal karyotypes,and the detection rate was 0.04%.A total of 2274 patients with chromosomal polymorphisms were detected,with a detection rate of 4.45%.Conclusions:Chromosomal abnormalities are one of the important genetic factors that lead to infertility and reproductive disorders.Routine chromosome karyotype analysis can help to clarify the causes,and timely genetic counseling to take reasonable treatment measures.

关 键 词：生殖 染色体核型 平衡易位 罗氏易位 倒位 

分 类 号：R711.6[医药卫生—妇产科学]