1920例遗传咨询者的细胞遗传学研究和分析

Cytogenetic study and analysis of 1920 genetic consultants

目的探讨遗传咨询者外周血染色体核型分析异常的类型、发生率与不良孕产史、不孕症、不育症、无精症、少精弱精症等临床疾病的关系。方法选取2019年9月至2022年5月在西北妇女儿童医院进行遗传咨询者1920例,抽取外周静脉血并对外周血淋巴细胞进行培养,采用染色体核型分析技术进行遗传学分析。结果1920例患者中检出染色体异常325例,异常检出率16.93%,其中染色体多态性变异250例(13.02%),染色体数目异常38例(1.98%),染色体结构异常37例(1.93%)。结论染色体异常在优生遗传咨询者中比例较高,外周血染色体核型分析技术有助于为不良孕产史、不孕症、不育症、无精症、少精弱精症等患者明确病因,为优生遗传咨询提供一定的科学依据,临床上应推荐此类人群接受遗传学核型分析检测。

Objective To investigate the relationship between the type and incidence of abnormal chromosome karyotype analysis in peripheral blood of genetic consultants and the clinical diseases such as history of adverse pregnancy outcomes,infertility,azoospermia,oligozoospermia and asthenospermia.Methods A total of 1920 patients who received genetic counseling were selected from September 2019 to May 2022 in Northwest Women's and Children's Hospital.Peripheral venous blood was drawn and peripheral blood lymphocytes were cultured,and genetic analysis was performed by chromosome karyotype analysis.Results A total of 325 cases with chromosomal abnormalities were detected in 1920 patients,with a detection rate of 16.93%,including 250 cases(13.02%)with chromosome polymorphism,38 cases(1.98%)with abnormal chromosome number and 37 cases(1.93%)with abnormal chromosome structure.Conclusion The proportion of chromosome abnormalities is higher in eugenic genetic counselors,and chromosome karyotype analysis technology in peripheral blood is helpful to identify the etiology of patients with history of adverse pregnancy outcomes,infertility,azoospermia,oligozoospermia and asthenospermia,and provide a certain scientific basis for eugenic genetic counseling.Genetic karyotype analysis should be recommended for such people in clinical practice.