一般易位和复杂易位对表型和生育遗传效应的比较研究

Comparative study of genetic effects of general translocation and complex translocation on phenotype and fertilization

目的 探讨一般平衡易位和复杂易位对表型和生育的遗传效应。方法 对遗传咨询中的两例平衡易位携带者进行细胞遗传学检测 ,并对 13 6例平衡易位携带者的临床资料进行统计学处理和分析。结果两例携带者的核型分别为 :46,XX ,t(10 ;2 2 ) (10q2 2 ;2 2 q 13 )和 46,XX ,t(1;14;10 ) (1q2 1;14q3 2 ;10p11)。统计学结果显示 ,一般易位导致智能低下和多发畸形的频率各为 3 5 % ;复杂易位所致智能低下频率为 2 1 73 % ,多发畸形的频率为17 3 9%。结论 复杂易位所致智力低下和畸形频率明显高于一般易位 。

Objective: To investigate genetic effects of complex translocation and general balanced translocation on phenotype and fertilization Methods: Two cases of balanced translocation carrier were tested by the method of cell genetics and the clinical data of 136 cases of balanced translocatrion carrier of were statistically analyzed Results: The karyotypes of the two cases of the carrier were: 46,XX,t(10;22)(10q22;22q 13) and 46,XX,t(1;14;10)(1q21;14q32;10p11)?The statistics showed that general balanced translocation caused low intelligence and multi-deformation at a rate of 35% while complex translocation caused low intelligence at a rate of 21.73%,and multi-deformation at a rate of 17.39% respectively Conclusion: There is a higher incidence of low intelligence and multi-deformation in the cases of complex translocation than in the cases of general balanced translocation, and complex translocation causes more serious deformation