倒位携带者遗传学及临床效应分析

Genetic and clinical effect analysis of inversion carriers

目的研究染色体倒位的遗传效应,探讨染色体倒位对携带者生育的影响。方法取患者外周血淋巴细胞按实验室常规染色体标本制备方法进行G-显带,9号染色体倒位者,则加做C带进行染色体核型分析以证实之。结果经G-显带和C-显带分析,11313例患者中共有128例为倒位携带者,发生率为1.13%,涉及的染色体有1-4,7,9-11和Y。其中以9号染色体臂间倒位的发生率最高,其次为Y染色体。9号染色体臂间倒位者有87例,发生率为0.77%,占倒位携带者的67.96%;Y染色体臂间倒位者有19例,发生率为0.17%,占倒位携带者的14.84%。结论染色体倒位是否对生育有影响目前尚无定论,但是对倒位携带者依据其病史及家族史给予正确的遗传咨询以指导临床是必要的。

Objective： To study the genetic effect of chromosome inversion, so that to detect the genetic reproductive risk in inversion carriers. Methods： Routinely cultured peripheral blood lymphocytes, using G- banding to detect the patient＇s chromosome. At the same time, C - banding were performed when the patients are 9 chromosome inversion. Results ： Through G - handing, C - banding analysis, 128 patients are inversion carriers from 11313 patients, the rate of inversion carriers is 1.13% （1：28/11313 ）, involving chromosome 1 to 4, 7, 9 to 11, and Y. 87 patients are 9 chromosome inversion, the recurrence rate is 0. 77% （ 87/11313 ）, and the rate is 67.96% （87/128） in inversion carriers. 19 patients are Y chromosome inversion, the recurrence rate is 0. 17% （ 19/ 11313） , and the rate is 14. 84% （19/128） in inversion carriers. Conclusions： There are no exact conclusion for chromosome inversion whether affected the reproductive, but provide accurate genetic and reproductive consultation to the patient by the history and family history is necessary.