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目的 :对发现的不育伴染色体 1;12平衡易位的孪生兄弟进行研究 ,探讨与精子发生的关系。 方法 :对孪生兄弟进行染色体核型、精液常规、外周血激素测定和睾丸病理分析 ,并进行精子发生相关基因YRRM1、DAZ和DYS2 4 0位点的测定。 结果 :孪生兄弟的染色体核型均为 4 6 ,XY ,t(1;12 ) (q2 4 ;q2 4 ) ;精子密度 <1 0× 10 6/ml;外周血睾酮略低于正常 ,FSH和LH均正常 ;Y染色体长臂上的YRRM1、DAZ和DYS2 4 0基因未见缺失 ;睾丸病理分析显示生精阻滞 ,偶见精子。 结论 :染色体平衡易位t(1;12 ) (q2 4 ;q2 4 )可能是孪生兄弟精子发生障碍的原因 ,在染色体的断裂部位可能存在人精子发生相关基因
OBJECTIVE: To study the relationship between infertile chromosome 1 and 12 twin translocations, and explore the relationship with spermatogenesis. Methods: The twin brothers were subjected to chromosomal karyotype analysis, semen routine test, peripheral blood hormone test and pathological examination of the testis, and the determination of spermatogenesis related genes YRRM1, DAZ and DYS240 was carried out. Results: The twin karyotypes were all 4 6, XY, t (1; 12) (q2 4; q2 4); sperm density <10 × 10 6 / ml; peripheral blood testosterone was slightly lower than normal, FSH and LH were normal; long arm Y chromosome YRRM1, DAZ and DYS2 40 genes were not deleted; testicular pathology showed spermatogenic arrest, occasionally sperm. CONCLUSIONS: The chromosomal equilibrium translocation t (1; 12) (q2 4; q2 4) may be responsible for the disorder of spermatogenesis in twin sibs. There may exist genes related to human spermatogenesis at the site of chromosome rupture