中国西南地区6 907例外周血染色体核型分析-现代医学

中国西南地区6 907例外周血染色体核型分析

单位：四川大学华西医院检验科, 四川成都 610041

分类号：R596.1

出版年·卷·期（页码）：2020·48·第九期（1185-1190）

摘要：

目的：探讨中国西南地区遗传性疾病染色体异常的分布情况，旨在为临床染色体病的诊断及遗传咨询提供指导。方法：收集中国西南地区6 907例外周血，通过对外周血淋巴细胞培养及秋水仙素处理，使其停止在分裂中期，经G显带后进行染色体核型分析。结果：在6 907例外周血染色体检查中检出异常核型1 071例，检出率为15.5%。在异常核型中，智力低下、发育迟缓占21.9%、不孕不育占14.8%，异常孕产史夫妇占6.2%闭经、月经紊乱占31.5%，性别分化异常占29.7%，优生咨询占7.9%，其他占7.3%。结论：染色体异常是智力低下、发育迟缓、不孕不育、流产及胚胎停育、闭经等的重要原因之一。开展染色检查，发展优生优育、遗传咨询、产前诊断，对减少遗传患儿的出生、提高人口素质具有重要意义。

Objective: To investigate the distribution of chromosomal abnormalities in inherited diseases in southwest China, and to provide guidance for the diagnosis and genetic counseling of clinical chromosomal diseases. Methods: Peripheral blood of 6 907 cases in southwest China was collected.The peripheral blood lymphocytes were cultured and the specimens were prepared，and G banding technique was used for karyotype analysis.Results: Among the 6 907 cases of peripheral blood chromosome examination, 1 071 cases of abnormal karyotype were detected, the detection rate being 15.5%. Among the abnormal karyotypes, mental retardation, infertility and couples with abnormal pregnancy history accounted for 21.9%, 14.8% and 6.2%, respectively, while the percentage of amenorrhea, menstrual disorders, abnormal gender differentiation and eugenic counseling was 31.5%,29.7% and 7.9%, respectively. The remaining accounted only for 7.3%.Conclusion: Chromosome abnormality is one of the important causes of mental and developmental retardation, infertility, abortion, embryo suspension and amenorrhea. Therefore, it is of great significance to carry out dyeing examination, developing eugenics, genetic counseling and prenatal diagnosis to reduce the birth of children with geneticdisease and improve the quality of the population.

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