重庆地区1726例遗传咨询者的外周血染色体核型分析  

Chromosome karyotype analysis of 1726 subjects attending genetic counseling in Chongqing area

作　　者：张天枫 李仁燕 廖明星 赵乐天 ZHANG Tianfeng;LI Renyan;LIAO Mingxing;ZHAO Letian(NHC Key Laboratory of Birth Defects and Reproductive Health,Chongqing Population and Family Planning Science and Technology Research Institute,Chongqing 401120,China)

机构地区：[1]国家卫生健康委出生缺陷与生殖健康重点实验室/重庆市人口和计划生育科学技术研究院,重庆401120

出　　处：《中国优生与遗传杂志》2023年第1期125-128,共4页Chinese Journal of Birth Health & Heredity

基　　金：重庆市科研机构绩效激励引导专项项目(cstc2020jxjl0018);重庆市自然科学基金面上项目(cstc2021jcyj-msxmX0304)。

摘　　要：目的通过统计重庆地区遗传咨询者外周血淋巴细胞染色体核型异常和多态的类型和分布,探讨染色体异常和多态与不良孕产史、不孕不育、少弱精等疾病之间的关系。方法回顾性分析2017—2022年重庆计生医院就诊的1726例遗传咨询者外周血染色体核型结果。结果1726例遗传咨询者外周血淋巴细胞染色体核型分析,共检出异常120例(6.95%),其中数目异常21例(1.22%),结构异常35例(2.03%);常染色体异常30例(1.74%),性染色体异常26例(1.51%);共检出染色体多态67例(3.88%)。结论染色体核型分析对生殖异常病因诊断,减少出生缺陷患儿的出生均有积极作用。Objective By analyzing the types and distribution of abnormal karyotypes and polymorphisms in peripheral blood lymphocytes of genetic counselors in Chongqing area,and to investigate the correlation between chromosomal abnormalities and polymorphisms and infertility,miscarriage,oligospermia and other diseases.Methods The karyotype results of peripheral blood of 1726 genetic counselors who visited Chongqing Family Planning Hospital from 2017 to 2022 were retrospectively analyzed.Results The karyotype analysis of peripheral blood lymphocytes of 1726 genetic counselors showed that 120 cases(6.95%)were abnormal,including 21 cases(1.22%)with abnormal number,35 cases(2.03%)with abnormal structure,and 30 cases with autosomal abnormality(1.74%).Sex chromosome abnormalities were found in 26 cases(1.51%).Chromosomal polymorphisms were detected in 67 cases(3.88%).Conclusion The karyotype analysis has a positive effect on the diagnosis of reproductive abnormalities,reducing the birth of children with birth defects,and improving the quality of the birth population.

关 键 词：重庆地区 遗传咨询 外周血核型分析 

分 类 号：R169.1[医药卫生—公共卫生与预防医学]