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目的对近几年来因生育异常到平凉市人民医院遗传室咨询的夫妇526例进行染色体臂间倒位的遗传效应分析。方法对以上两种人群的外周血进行G显带染色体核型分析。结果检出染色体倒位携带者有7例,检出率为1.33%,其中,9号染色体臂间倒位携带者占4例,检出率为0.76%,1、3、6号染色体倒位携带者各1例,检出率为0.11%。结论人群中染色体倒位携带者婚后可引发流产、死胎、生育畸形和不孕等生育异常现象,使患者身心蒙受损害。部分病例最终可获得表型正常的子女,但这些后代中不少也携带有与亲代同样的倒位染色体,也将遭受和父母同样的痛苦。因此,对携带者应严格进行产前诊断,以防染色体异常患儿的出生,有利提高人口素质。
Objective To analyze the genetic effect of 526 inversions of chromosomes between arms due to the abnormal fertility in Pingliang People’s Hospital in recent years. Methods The G-banding karyotypes of peripheral blood in the above two groups were analyzed. Results There were 7 cases with chromosome inversion in detection and the detection rate was 1.33%. Among them, 4 cases were inversed by arm 9 on chromosome 9, the detection rate was 0.76%. The chromosomes 1, 3 and 6 were inversed Carriers in 1 case, the detection rate was 0.11%. Conclusions Chromosome inversion carriers in the population may induce abnormal births such as miscarriage, stillbirth, maternity deformity and infertility after marriage, which may cause physical and psychological harm to the patient. In some cases, children with normal phenotypes are eventually available, but many of these offspring also carry the same inverted chromosome as their parents and suffer the same pain as their parents. Therefore, the carrier should be strictly prenatal diagnosis to prevent the birth of children with chromosomal abnormalities, which will help improve the quality of the population.