平衡复杂染色体重排携带者的遗传与生育情况分析

发布时间：2017-12-28 14:25

本文关键词：平衡复杂染色体重排携带者的遗传与生育情况分析　出处：《遗传》2017年05期 　论文类型：期刊论文

【摘要】：为探讨中国人群平衡复杂染色体重排(complex chromosome rearrangements,CCRs)的类型、特征和减数分裂行为及其与生殖异常的关系,采用常规G显带技术对因生育问题就诊的1063对夫妇进行核型分析,并检索中国人群平衡CCR携带者的核型及临床资料进行统计分析。在受检者中检出2例平衡CCR携带者,并从国内外数据库中检索发现的平衡CCR携带者总共124例,3方和4方重排为主要类型,占51.6%,双重相互易位占26.6%,特殊CCR占21.8%。平衡CCR携带者或其配偶自然流产和胚胎停止发育(胎停育)发生率为77.6%,多发性先天畸形(multiple congenital abnormalities,MCA)等不良妊娠发生率为9.7%。三种类型平衡CCR携带者各种妊娠结局发生率的差异具有统计学意义(P0.05)。对男性CCRs累及的染色体分析发现,累及1号染色体的CCRs多表现为生精障碍,累及8号染色体的CCRs多发生不良妊娠(P≤0.05)。分析CCRs减数分裂染色体分离模式发现,后代的异常核型多来自于邻近-1分离方式(8/12)。发生不对称分离(3:2、4:2和5:3分离)的CCRs中D-G组染色体累及频率相对高(46.2%)。结果表明,平衡CCR携带者不良妊娠风险高,即使正常妊娠也应进行产前诊断。男性平衡CCR携带者生精障碍发生机率高,CCRs累及的染色体对男性携带者生育能力有影响。另外,CCRs携带者减数分裂染色体分离模式也与累及的染色体有关。分析CCRs的类型、累及的染色体和易位片段的大小等因素可针对特定CCR做出更准确的遗传和生育指导。
[Abstract]:In order to investigate the China population balanced complex chromosomal rearrangement (complex chromosome rearrangements, CCRs) of the type, characteristics and meiotic behavior and its relationship with reproductive abnormalities, using conventional G karyotype analysis of 1063 couples with fertility problems were banding, and retrieval and clinical data of China population balance with CCR karyotype analysis. Among the subjects, 2 cases of balanced CCR carriers were detected, and 124 cases of balanced CCR carriers were retrieved from domestic and foreign databases. The 3 party and 4 Party rearranged as the main type, accounting for 51.6%, the double reciprocal translocation accounted for 26.6%, and the special CCR accounted for 21.8%. The incidence of spontaneous abortion and embryo stop development (fetal arrest) of CCR carriers or their spouses was 77.6%, and the incidence of adverse pregnancy of multiple congenital abnormalities (MCA) was 9.7%. The difference in the incidence of pregnancy outcomes of three types of balanced CCR carriers was statistically significant (P0.05). For the men involved in CCRs chromosome analysis showed that chromosome 1 CCRs showed dyszoospermia, chromosome 8 CCRs the occurrence of adverse pregnancy (P = 0.05). The analysis of chromosome segregation patterns in CCRs meiosis showed that the abnormal karyotype of offspring came from the adjacent -1 separation mode (8/12). The frequencies of chromosomes involved in the D-G group of CCRs in CCRs with asymmetric separation (3:2, 4:2 and 5:3 separation) were relatively high (46.2%). The results showed that the risk of undesirable pregnancy was high in the balanced CCR carrier, and the prenatal diagnosis should be carried out even in the normal pregnancy. The incidence of spermatogenesis disorders in male balanced CCR carriers is high, and the chromosomes involved in CCRs have an impact on the fertility of male carriers. In addition, the meiotic chromosome segregation pattern of CCRs carriers is also related to the chromosomes involved. The analysis of the types of CCRs, the size of the chromosomes involved and the size of the translocation fragments can make more accurate genetic and reproductive guidance for specific CCR.
【作者单位】：蚌埠医学院生物科学系;
【基金】：安徽省高等学校省级自然科学研究重点项目(编号:KJ2015A263) 国家级大学生创新创业训练计划项目(编号:201510367042)资助~~
【分类号】：R394
【正文快照】： 复杂染色体重排(complex chromosome rearran-gements,CCRs)是涉及2条或2条以上染色体、至少3个断裂点的染色体结构畸变,畸变类型主要为易位。多数CCRs往往涉及3条及以上染色体、3个或者更多断裂点。CCRs虽较为罕见,但种类较多,根据重排类型及复杂程度,通常将CCRs分为3种类型[

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