保定地区1617例遗传咨询者外周血染色体核型分析  

Analysis of Chromosomal Karyotypes of Peripheral Blood from 1 617 Patients Requesting Genetic Counseling in Baoding Area

作　　者：宋静岚 殷晨星[2] 姚克文[1] 李伟[1] 阎丹丹 卢莹 SONG Jinglan;YIN Chenxing;YAO Kewen;LI Wei;YAN Dandan;LU Ying(Department of Medical Genetics,the Maternal and Child Health Care Hospital of Baoding,Hebei Baoding 071000,China)

机构地区：[1]保定市妇幼保健院医学遗传科,河北保定071000 [2]保定市妇幼保健院生殖中心,河北保定071000

出　　处：《河北师范大学学报（自然科学版）》2023年第2期187-193,共7页Journal of Hebei Normal University：Natural Science

基　　金：保定市科技计划项目(1951ZF087)。

摘　　要：为探讨保定地区遗传咨询者染色体异常核型类型及检出率,并分析染色体异常与临床表型之间的相关性,选取2018年1月至2021年10月在保定市妇幼保健院就诊的1 617例遗传咨询者作为研究对象,采集外周血进行淋巴细胞培养,常规方法制备染色体,G显带后进行染色体核型分析.共检出异常核型54例,异常检出率为3.34%,包括数目异常14例(25.93%)和结构异常40例(74.07%).异常检出率最高为智力低下组(28.21%),主要见于21-三体;其次是发育异常组(26.31%),主要见于特纳综合征;不良孕产史组是构成遗传咨询的主要原因,异常检出率为2.40%,主要见于平衡易位和罗氏易位;不孕不育组异常检出率为2.64%.保定地区遗传咨询者染色体异常是导致不良孕产史、不孕不育、发育异常、智力低下等疾病的重要原因之一,应着重对此类患者进行外周血染色体检测,以寻找病因、指导优生优育、提高保定地区人口素质.To investigate the type and detection rate of abnormal chromosomal karyotypes, and analyze the correlation between chromosomal abnormalities and clinical phenotypes, 1 617 patients who visited Maternal and Child Health Care Hospital of Baoding and requested genetic counseling during January 2018 and October 2021 were selected to collect peripheral blood for lymphocyte culture.The chromosomes were prepared by the conventional method, and chromosomal karyotype analysis was performed by using G-banding technique.A total of 54 abnormal karyotypes were detected with the abnormal detection rate of 3.34 %,of which 14 cases were chromosome number abnormality(25.93 %),and 40 cases were structural abnormality(74.07 %).The highest detection rate was found in mental retardation group(28.21 %),mainly found as 21 trisomy.The second highest detection rate was found in developmental abnormality group(26.31 %),mainly found as Turner syndrome.Adverse pregnancy history was the main reason for requesting genetic counseling, and the abnormal detection rate was 2.40 %,mainly found in balanced translocation and roche translocation.The abnormal detection rate of infertility group was 2.64 %.Chromosomal karyotype abnormality of patients requesting genetic counseling in Baoding area is one of the important causes of adverse pregnancy history, infertility, developmental abnormality and mental retardation.We should pay attention to the chromosomal karyotype examination of the above patients in order to find the causes, guide eugenics and improve the population quality of Baoding area.

关 键 词：遗传咨询者 临床表型 外周血 核型分析 染色体异常 

分 类 号：R596.1[医药卫生—内科学]