广东清远地区遗传咨询者外周血染色体核型分析

Analysis of chromosome karyotype in peripheral blood of genetic consultants in Qingyuan District, Guangdong

目的探讨清远地区遗传咨询者外周血淋巴细胞染色体核型异常和多态发生率及类型,并分析染色体异常和多态与矮小症、不孕不育、流产、遗传之间的相关性,以帮助临床诊疗、指导优生优育和提高清远地区出生人口素质。方法选取2015年5月—2020年3月来清远市妇幼保健院的1203例遗传咨询者采集外周血进行淋巴细胞培养,常规方法制备染色体,并运用G显带技术进行染色体核型分析,统计核型检测结果,并分析核型异常和多态与疾病、遗传之间的相关性。结果 1203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48例(3.99%),其中数目异常24例,结构异常22例,性反转2例;性染色体异常10例,常染色体异常38例;共检出染色体多态224例(18.62%)。结论清远地区遗传咨询者外周血淋巴细胞染色体核型异常是导致矮小症、不孕不育、流产疾病的重要原因之一,对具有这些临床症状的患者必须进行外周血染色体核型检测,多态性与遗传有重大关系。

Objective To investigate the incidence and type of chromosomal karyotype abnormalities and polymorphisms in peripheral blood lymphocytes of genetic consultants in Qingyuan, and analyze the correlations of chromosomal abnormalities and polymorphisms with short stature, infertility, abortion and heredity, so as to help clinical diagnosis and treatment and guide prenatal and postnatal care and improve the quality of the population born in Qingyuan. Methods 1,203 genetic consultants visited Maternal and Child Health Hospital of Qingyuan City from May 2015 to March 2020 were selected to collect peripheral blood for lymphocyte culture.Chromosomes were prepared by routine methods. Chromosome karyotype analysis was carried out by using G-banding technique.Count the results of karyotype testing, and analyze the correlation of karyotype abnormalities and polymorphisms wife diseases and heredity. Results Among the 1,203 genetic consultants received chromosomal karyotype analysis of peripheral blood lymphocytes, abnormalities were detected in a total of 48(3.99%) cases, including numerical abnormalities in 24 cases, structural abnormalities in 22 cases, sex reversal in 2 cases.sex chromosomal abnormalities in 10 cases and autosomal abnormalities in 38 cases. 224(18.62%) cases of chromosomal polymorphisms were detected. Conclusion Chromosomal karyotype abnormalities in peripheral blood lymphocytes of genetic consultants in Qingyuan are one of the important causes of short stature, infertility and abortion. For patients with these clinical symptoms, peripheral blood chromosomal karyotype detection is necessary. Polymorphisms are closely correlated with heredity.