染色体1;12平衡易位与精子发生相关性研究

Study on the Relationship of Balanced Translocation t(1;12) with Spermatogenesis

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 。

Objectives: To investigate the relationship between chromosome balanced translocation t(1;12)(q24;q24) and spermatogenesis in infertile twin brothers. Methods: For twin brothers, karotype were determined. The levels of testosterone, FSH and LH were detected. YRRM1, DAZ and DYS240 were analyzed. In younger brother a biopsy was taken from testis. Results: Chromosome analysis for both twin brothers revealed a karotype of 46, XY, t(1;12)(q24;q24). Sperm count was less than 1.0×10 6 /ml. There was no deletion for YRRM1, DAZ and DYS240 gene on Y chromosome. Photomicrograph of seminiferous tubules showed the arrest of spermatogenesis. Conclusions: Chromosome balanced translocation t(1;12)(q24;q24) may be the cause of the spermatogenesis arrest in infertile twin brothers. Gene in the point of translocation may be related to spermatogenesis.