广西染色体结构异常的不育者家系遗传研究  

Genetic study on infertile families with abnormal chromosome structure in Guangxi

作　　者：陈美佳 吕福通 黄霈 韦雅淑 孙燕 CHEN Meijia;LYU Futong;HUANG Pei;WEI Yashu;SUN Yan(The Reproductive Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530021,China)

机构地区：[1]广西壮族自治区生殖医院,广西南宁530021

出　　处：《中国优生与遗传杂志》2023年第6期1158-1161,共4页Chinese Journal of Birth Health & Heredity

基　　金：广西自然科学基金青年基金项目(2014GXNSFBA 118199);广西卫生健康委员会自筹经费科研课题(Z20211012)。

摘　　要：目的探讨广西不育患者中染色体结构异常家系的遗传方式、遗传概率及家系中染色体异常携带者妊娠结局。方法在广西筛选60例染色体平衡易位或倒位的不育患者,对家系所有成员行细胞遗传学分析,染色体遗传图谱绘制,并对染色体异常患者进行生育指导。结果生育正常及携带者子代的遗传概率远高于理论值,经生育指导及产前诊断,共成功生育子代42人,无缺陷儿出生。结论染色体异常在家系中通过携带者稳定遗传,染色体异常类型和断裂位点会导致不同程度的临床表现,对子代的生育影响有所差别,尽早检出家系的染色体异常携带者并在合适的育龄生育至关重要。Objective To explore the family with abnormal chromosome structure in Guangxi,including genetic mode,genetic probability and pregnancy outcome.Methods We selected 60 cases of infertility patients with balanced translocation and chromosome inversion in Guangxi,performed cytogenetic analysis on all members of the family,mapped chromosome genetic maps,and gave birth guidance to patients with abnormal chromosomes.Results The genetic probability of normal and carrier birth was much higher than the theory.After birth guidance and prenatal diagnosis,a total of 42 children were successfully born without defects.Conclusion Chromosome abnormalities were stably inherited by carriers in families.The type of chromosome abnormality and breakpoints may lead to different degrees of clinical manifestations,and have different effects on the fertility.Therefore,it is very important to detect chromosomal abnormal carriers in families as early as possible and give birth at an appropriate childbearing age.

关 键 词：平衡易位 染色体倒位 家系遗传图谱 辅助生殖技术 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]