空军军医大学学报2024,Vol.45Issue(6) :666-669.DOI:10.13276/j.issn.2097-1656.2024.06.011

1 920例遗传咨询者的细胞遗传学研究和分析

Cytogenetic study and analysis of 1 920 genetic consultants

李蕴宁 刘瑗 强荣 李伟
空军军医大学学报2024,Vol.45Issue(6) :666-669.DOI:10.13276/j.issn.2097-1656.2024.06.011

1 920例遗传咨询者的细胞遗传学研究和分析

Cytogenetic study and analysis of 1 920 genetic consultants

李蕴宁 1刘瑗 1强荣 1李伟1
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作者信息

  • 1. 西北妇女儿童医院医学遗传中心,陕西西安 710061
  • 折叠

摘要

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1 920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 1 920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.

Abstract

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 1 920 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 1 920 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.

关键词

遗传咨询/染色体/不孕不育/无精症/少精弱精症

Key words

genetic counseling/chromosome/infertility/azoospermia/oligozoospermia and asthenospermia

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基金项目

国家自然科学基金(82201865)

出版年

2024
空军军医大学学报
第四军医大学

空军军医大学学报

CHSSCD
影响因子:0.372
ISSN:2097-1656
参考文献量12
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