中国男性复杂染色体重排特征及携带者生育情况分析  

Characteristics of complex chromosomal rearrangement in Chinese male carriers and its impact on male fertility

作　　者：陈英剑[1] 张玮玮[1] 吴艳花[1] 孙晓明[1] 包慧[1] 胡成进[1] 

机构地区：[1]济南军区总医院实验诊断科,山东济南250031

出　　处：《中华男科学杂志》2014年第12期1120-1125,共6页National Journal of Andrology

摘　　要：目的:探讨中国人群中男性复杂染色体重排(CCR)携带者CCR类型及特征,并分析其对男性生育的影响。方法:用G带技术对因生育问题就诊的患者外周血淋巴细胞进行核型分析。检索1984年1月至2013年11月CNKI以及万方数据库有关CCR的文献,对有生育信息的男性CCR携带者的CCR类型及生育情况进行统计、分析。结果:1 625对夫妇中共检出男性CCR 2例;数据库中检索到有生育信息的男性CCR携带者47例。49例CCR中有3方重排17例(34.7%),双重双向易位17例(34.7%),特殊CCR 15例(30.6%),3种类型的发生率无明显差别(P>0.05)。对临床资料的分析发现19例(38.8%)男性CCR携带者表现无精或少精子症导致的不育,其余30例(61.2%)男性CCR携带者的妻子共妊娠87次,自然流产或胚胎停育66次,占75.9%,畸胎死胎、早夭畸形儿8次(9.2%),生育表型正常后代13个(14.9%)。对CCR累及的染色体及断裂点分析发现,累及6、7、8、11和16号染色体的CCR多出现不良妊娠,而累及10和14号染色体的CCR主要表现为生精障碍;断裂点1p22,1q25,2q31,2q33,5p13,5q35,6q23,8q13和20p13出现3次以上,其中断裂点1p22主要见于生精障碍者,断裂点2q31,5q35,和8q13多见反复流产。结论:CCR非常少见,表型正常的男性CCR携带者多因存在生育问题而被发现。男性CCR携带者不育的机率高、妻子出现异常妊娠的风险高,生育正常孩子的机会很小。此外,CCR累及的染色体及断裂点位置影响携带者的生育能力,某些染色体断裂点位置可能在配子形成过程中起关键作用。Objective： To analyze the characteristics of complex chromosomal rearrangement （CCR） in Chinese male carriers and its influence on male fertility. Methods： Using the G band technique, we conducted karyotype analysis on the peripheral blood lymphocytes of 1 625 Chinese males with reproductive problems. We also searched CNKI and Wanfang database for CCR-related literature published between January 1984 and November 2013, followed by statistical analysis on the CCR characteristics and reproductionrelated data of the CCR carriers. Results ： Two CCR carriers were found among the 1 625 males and another 47 cases identified from the databases. Among the 49 CCR carriers, there were 17 three-way exchange cases （34.7%）, 17 double two-way exchange cases （34.7%）, and 15 exceptional cases （30.6%）, with no statistically significant differences in the incidence of the three types （P 〉 0.05 ）. Azoospermia- or oligospermia-induced infertility was found in 19 （38.8%） of the CCR carriers. A total of 87 pregnancies were achieved in the other 30 （61.2%）, among which spontaneous abortion occurred in 75.9% （66/87）, dead fetus and malformed infant death in 9.2% （8/87）, and phenotypically normal offspring in 14.9% （13/87）. Recurrent abortion was associated frequently with breakpoints on CCR-involved chromosomes 6, 7, 8, 11, and 16, while dyszoospermia mostly with breakpoints on CCR-involved chromosomes 10 and 14. The breaking occurred more than 3 times at 1p22, 1q25, 2q31,5p13, 5q35, 6q23, 8q13, and 20p13. Moreover, the breakpoints at 2q31,5q35, and 8q13 were particularly related to recurrent abortion, while that at 1p22 only to dyszoospermia. Conclusion ： CCR is extremely rare. Male CCR carriers are often identified through reproductive problems and have high risks of infertility and abnormal pregnancy and a very low rate of normal newborns. In addition, chromosomes and breakpoints involved in CCR may affect the fertility of male CCR carriers, and some particular chromosomal breakpoints

关 键 词：复杂染色体重排 男性携带者 生育 不育 遗传咨询 

分 类 号：R698.2[医药卫生—泌尿科学]