复杂染色体重排携带者的遗传学分析  

Genetic analysis of carriers of complex chromosome rearrangement

作　　者：田浩 邵敏杰[1,2,3,4,5] 闫丽盈[1,2,3,4,5] 乔杰[1] TIAN Hao;SHAO Min-jei;YAN Li-yingg;QIAO Jie(Center of Reproductive Medicine,Department of Obstetrics and Gynecology,Peking University Third Hospital,Beijing 100191,China;National Clinical Research Center for Obstetrics and Gynecology,Peking University Third Hospital,Beijing 100191,China;Key Laboratory of Assisted Reproduction(Peking University),Ministry of Education,Peking University Third Hospital,Beijing 100191,China;Bejing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology,Peking University Third Hospital,Beijing 100191,China;State Key Laboratory of Female Fertility Promotion,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]北京大学第三医院妇产科生殖医学中心,北京100191 [2]北京大学第三医院国家妇产疾病临床医学研究中心,北京100191 [3]北京大学第三医院辅助生殖教育部重点实验室(北京大学),北京100191 [4]北京大学第三医院北京市生殖内分泌与辅助生殖技术重点实验室,北京100191 [5]北京大学第三医院女性生育力促进全国重点实验室,北京100191

出　　处：《中华男科学杂志》2024年第6期493-498,共6页National Journal of Andrology

基　　金：国家自然科学基金杰出青年科学基金(82125013)。

摘　　要：目的:回顾了2011年1月至2015年12月就诊的复杂染色体重排(CCR)患者,对其所涉及的染色体数量、断裂点数目及患者的临床表型等进行综合分析。方法:应用G显带、C显带和荧光原位杂交(FISH)对生育异常患者进行外周血染色体核型分析。结果:23745例生育异常患者中检出28例CCR携带者,携带率为0.118%,其中男性18例,主要表现为无精子症或少弱畸形精子症,女性10例,主要表现为不孕症、复发性流产、胚胎停育史及不良生育史。28例CCR患者中三方重排、双重易位和特殊易位占比分别为32.14%(9/28)、25%(7/28)、42.86%(12/28)。CCR携带者涉及的重排染色体除了12和19号之外其他染色体均有累及,其中以2和5号染色体累及次数最多。结论:目前CCR人群携带率较低,表型正常的携带者常因生育问题而被发现,由于其生育正常孩子的几率较低,采用植入前遗传性诊断技术可以提高活产率。同时CCR患者所累及的染色体及断裂点位置均不同,所以每例CCR携带者均应给予精准遗传咨询。Objective:To comprehensively analyze the numbers of involved chromosomes and breakpoints and the clinical phenotypes of the patients with complex chromosome rearrangement(CCR).Methods:We selected 23745 patients with abnormal fertility seeking medical care in the Center of Reproductive Medicine of Peking University Third Hospital from 2011 to 2015,and analyzed their peripheral blood chromosomal karyotypes using G-banding,C-banding and fluorescence in situ hybridization(FISH).Results:A total of 28 CCR carriers(0.118%)were detected among the 23745 patients with abnormal fertility,including 18 males mainly with azoospermia or oligoasthenospermia and 10 females mainly with infertility,recurrent abortion,embryo termination and abnormal birth.Of the 28 cases of CCR,tripartite rearrangement was found in 9(32.14%),double translocation in 7(25%)and special translocation in 12(42.86%).CCR carrier-related chromosomes were all involved but chromosomes 12 and 19,while 2 and 5 were involved most frequently.Conclusion:At present,the incidence of CCR is low.CCR carriers with normal phenotypes are often found because of reproductive problems,and their low chance of having a normal baby necessitates the use of preimplantation genetic test to improve the rate of live birth.Due to the diversity of the chromosomes and breakpoints involved in CCR,it is crucial to give each CCR carrier precise genetic counseling.

关 键 词：复杂染色体重排 形成机制 遗传咨询 植入前遗传学诊断 

分 类 号：R394.2[医药卫生—医学遗传学]