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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 and to explore the effect of chromosome inversion on the reproduction of carriers. Methods Peripheral blood lymphocytes from patients with conventional laboratory preparation of chromosome specimens for G-banding, chromosome 9 inversions, then do C with chromosome karyotype analysis to confirm it. Results By G-banding and C-banding analysis, a total of 128 out of 11313 patients were transposition carriers, the incidence was 1.13%, and the chromosomes involved were 1-4, 7, 9-11 and Y. Among them, chromosome 9 had the highest incidence of inversions among the arms, followed by the Y chromosome. There were 87 cases of inter-arm inversions on chromosome 9, the incidence rate was 0.77%, accounting for 67.96% of the cases of transposition carriers; 19 cases of Y-arm intercalation, the incidence rate was 0.17% 14.84%. Conclusions It is not known whether chromosomal inversion affects fertility. However, it is necessary to provide proper genetic counseling to patients with transposition based on their medical history and family history.