新疆地区193例染色体相互易位患者的细胞遗传学分析

Cytogenetic Analysis about 193 Patients with Chromosomal Translocation in Xinjiang Region

目的统计分析新疆地区人群染色体相互易位的发生率、类型及分布情况,探讨染色体易位对人类生殖健康和遗传的影响。方法对2012年1月-2020年12月因不孕不育、自然流产、反复流产、死胎等不良妊娠史或发育异常到本院就诊的32,794例新疆地区患者外周血淋巴细胞染色体核型分析,对染色体相互易位的发生率、类型及分布情况进行统计。结果32794例患者中检测出193例染色体相互易位携带者,检出率为0.59%。其中女性相互易位患者75例,占38.90%;男性患者118例,占61.10%;相互易位145例,占75.10%,罗伯逊易位48例,占24.90%,共6种核型类型,均为非同源罗伯逊易位。结论不孕不育人群中,常染色体相互易位最多见,且随机性大。罗伯逊易位核型中非同源易位der(13;14)(q10;q10)核型最多见,占罗伯逊易位的72.92%(35/48)。

Objective To analyze about the incidence,type and distribution of chromosomal translocation in Xinjiang region and further to investigate the impact of chromosomal translocation on human reproductive health.Methods Chromosome karyotypes of peripheral blood lymphocytes of 32794 patients from Xinjiang regionwith infertility,spontaneous abortion,repeated abortion,stillbirth and other adverse pregnancy history or abnormal development who visited our hospital from January 2012 to December 2020 were analyzed,and the incidence,type and distribution of chromosomal mutual translocation were statistically analyzed.Results 193 cases ofchromosomal translocation carriers were detected in 32794 patients,the detection rate was 0.59%.Among them,75 cases(38.9%)were female translocation patients.There were 118 male patients(61.1%).There were 145 cases of mutual translocation(75.1%)and 48 cases of Robertson translocation(24.9%),with a total of 6 karyotypes,all of which were non-homologous Robertson translocation.Conclusion In theinfertile population,autosomal translocation is the most common and random.Non-homologous translocation DER(13;14)(q10;q10)karyotype was the most commoninthe Robertson translocation karyotype,accounting for 72.92%(35/48)of Robertson translocation.