9号染色体臂间倒位的遗传效应分析

目的探讨9号染色体臂间倒位的常见区带及其所产生的遗传效应.方法应用统计学方法对国内中文杂志从1994年以来报道的342例9号染色体臂间倒位进行分析.结果117例(34.2%)为次缢痕区(p11q12)的倒位,96例(28.1%)倒位区带为p11q13,由此可见,inv(9)主要发生于次缢痕区,而且大部分病例都有不同的临床病理表现.结论从目前的研究资料分析,许多研究者倾向于inv(9)(qh)并非仅是一种多态性,它可能在一定的诱因存在下会对减数分裂时同源染色体的分离产生一定的影响.

Analysis of genetic effects for pericentric inversions of chromosome 9

Objective: This paper is to investigate the genetic effects for pericentric inversions of chromosome 9 [inv(9)] in human. Methods: We reviewed 342 cases of inv(9) reported in China since 1994 and analyzed the results with statistic methods. Results: It shows that there are 117 (34.2%) cases of inv(9) (p11q12) and 96 (28.1%) ones of inv(9) (p11q13). Therefore, constitutional pericentric inversion of chromosome 9 is common in human. Furthermore, all the cases have different clinic symptoms. Conclusions: constitutional pericentric inversion of chromosome 9 probably has some genetic effects.