南京地区1776例外周血淋巴细胞染色体核型分析

Chromosome karyotype analysis of 1776 peripheral blood lymphocytes in Nanjing Area

目的探讨染色体核型异常与南京地区常住人口染色体病的分布关系。方法收集2006年1月至2016年1月间本院进行染色体检查的1776位居民肝素锂抗凝外周血,将其中淋巴细胞分离培养,显微镜观察并记录G显带染色体核型,按照人类细胞遗传学命名国际体系(ISCN 2013)统计染色体核型。结果在1776例受检者中,检出染色体异常核型样本280例(15.76%)。其中常染色体数目异常26例(1.46%),常染色体结构异常33例(1.86%),性染色体数目异常140例(7.88%),性染色体结构异常29例(1.63%),性别扭转39例(2.20%),嵌合体13例(0.73%);806例具有临床表现的男性样本中检出染色体异常核型108例(13.40%),429例女性样本中检出染色体异常核型65例(15.15%)。结论通过染色体核型分析结合临床表现可以明确病因,诊断染色体病,为临床诊断、遗传咨询等提供重要依据及指导意义。

Objective To investigate the correlation between abnormal karyotypes and the distribution of chromosomal diseases in Nanjing.Methods 1776 samples from January 2006 to January 2016 with heparin lithium anticoagulant peripheral blood were collected for chromosome examination in the first affiliated hospital,Nanjing Medical University.Lymphocytes were separated and cultured respectively.Karyotype was observed by G banding and recorded by the International System of Human Cytogenetic Naming(ISCN 2013).Results Among 1776 cases,280(15.76%)were abnormal karyotypes.Within them,26 cases(1.46%)were abnormal in the number of autosomal chromosomes,33 cases(1.86%),140 cases(7.88%),29 cases(1.63%),39 cases(2.20%)were abnormal in the number of sex chromosomes,13 cases(0.73%)were abnormal in the structure of sex chromosomes,108 cases(13.40%)were abnormal in the 806 male samples with clinical manifestations,and 429 female samples.65 cases(15.15%)were abnormal karyotype.Conclusion karyotype analysis combined with clinical manifestations can identify the cause of disease,and provide important information for clinical diagnosis and genetic consultation.