摘要
目的于2023年7—12月,对开封地区324例(162对夫妻)进行11种常见单基因遗传病携带者筛查,对检出的携带者进行生育指导,以减少出生缺陷儿出生。方法采用高通量测序技术,由郑州大学第一附属医院遗传与产前诊断中心提供检测技术平台。结果324例中,筛查出常染色体隐性遗传病携带者99人,总携带率为30.56%。其中仅男方携带致病变异36人,仅女方携带致病变异25人,男女双方同时携带相同致病基因6人(3对),男女双方携带不同致病基因位点20人(10对)。结论通过携带者筛查可及时检出携带者,对携带者夫妻进行生育指导、干预及健康教育,通过产前诊断减少致愚、致畸、致残患儿出生,为出生缺陷防控,提高健康生育质量有重要意义。
Objective From July to December 2023,324 cases(162 couples)in Kaifeng were screened for 11 common single gene genetic disease carriers,and fertility guidance was provided to the detected carriers in order to reduce the birth of defective children.Methods Using the high-throughput sequencing technology,the testing technology platform is provided by the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University.Results Among 324 cases,99 carriers of autosomal recessive genetic diseases were screened,with a total carrier rate of 30.56%.Among them,only 36 males carry pathogenic mutations,25 females carry pathogenic mutations,6 males and females carry the same pathogenic gene simultaneously(3 pairs),and 20 males and females carry different pathogenic gene loci(10 pairs).Conclusion Carrier screening can detect carriers in time,provide fertility guidance,intervention,and health education to carrier couples.Meanwhile,using prenatal diagnosis can reduce the birth of children with stupidity,deformities and disabilities.This is of great significance for preventing and controlling birth defects and improving the quality of healthy reproduction.
作者
冯杏琳
宋雅倩
邵慧娟
刘丹
张东红
李彬
姜圆圆
申华
王艳艳
FENG Xinglin;SONG Yaqian;SHAO Huijuan;LIU Dan;ZHANG Donghong;LI Bin;JIANG Yuanyuan;SHEN Hua;WANG Yanyan(Medical Genetics Department of Kaifeng Obstetrics and Gynecology Hospital,Key Discipline of Medical Genetics in Henan Province,Key Laboratory of Medical Genetics in Henan Province,Kaifeng Key Laboratory of Medical Genetics,Kaifeng Key Laboratory of Prenatal Diagnosis,Kaifeng,He’nan 475000,China;Kaifeng Obstetrics and Gynecology Hospital Obstetrics and Gynecology Outpatient Department,Kaifeng,He’nan 475000,China)
出处
《中国优生与遗传杂志》
2025年第3期615-619,共5页
Chinese Journal of Birth Health & Heredity
基金
开封市科技发展计划项目(2403059)。
关键词
单基因病
携带者
筛查
生育指导
single gene genetic disease
carrier
screening
fertility guidance
