三例体细胞染色体异常男性的单倍染色体分析  

HUMAN SPERM CHROMOSOME STUDIES IN THREE KINDS OF SOMATIC ABNORMAL CHROMOSOME CASES

作　　者：李运星[1] 霍沛丹[1] 马天根[1] 

机构地区：[1]四川省计划生育科学研究所

出　　处：《中华医学遗传学杂志》1996年第3期164-166,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金;四川省科委资助

摘　　要：为了解体细胞异常男性的精子染色体变化情况，对３例有反复流产史的体细胞染色体异常男性单倍染色体进行了分析。其中１例４６，ＸＹ，ｔ（１３；１６），＋１６ｐ病例的精子染色体异常率为７６．３６％；１例４５，ＸＹ，Ｒｏｂ（２２；２２）病例仅见两种异常核型，即２３，Ｘ（Ｙ），－２２，＋Ｒｏｂ（２２；２２）为５８．８２％，２２，Ｘ（Ｙ），－２２为４１．１８％；１例４６，ＸＹ，ＹＰ＋病例发现３类Ｙ染色体核型，即２３，ＹＰ＋、２３，Ｙｐ－、２３，Ｙ；Ｘ染色体无变化。上述结果表明相互平衡易泣染色体携带者的精子染色体变化类型较复杂；罗伯逊易位携带者的精子染色体变化较简单；而Ｙ染色体短臂增加者的精子染色体变化有３类，并未见有关报道，是否造成有害的遗传效应尚有待进一步结合体细胞、生殖细胞与子代细胞的染色体进行深入研究。Human sperm haploid chromosomes from three men with different kinds of somatic abnormal chromosome were analysed. The rate of abnormal karyotype in the reciprocal translocation (13;16)was 76. 36%, The ratio included 33(60%)unbalance translocations and 9(16. 36%)balance translocations. The rate of abnormal karyotype in Rob translocation(22; 22) was 100%, of the translocations studied, 58.82% of karyotypes were 23,X(Y),-22, +Rob(22;22), and 41.18% were 22,X(Y),-22. In case of 46,XY,Yp+,three kinds of Y chromosome were found; the rates of 23, Yp+; 23,Yp- and 23,Y were 20.7%,18.0%and 16.3% respectively. The X chromosome was normal.These results show that the change of sperm chromosome in reciprocal translocation is complex and the change of Rob translocation is simple, As for the harmful effect of Yp+, more studies on the chromosomes of somatic cell, germ cell and generational cell are needed.

关 键 词：体细胞 染色体 单倍染色体 罗伯逊易位 男性 

分 类 号：R596.1[医药卫生—内科学]