摘要
目的:探讨本地区外周血染色体异常核型分布及与临床疾病的关系。方法:对本地区792例遗传咨询者,抽取外周血,培养淋巴细胞,常规G显带,进行染色体核型分析。结果:792例遗传咨询者中检出50例异常核型,发生率6.31%。2009年-2011年异常核型检出例(率)分别为15(6.00%)、16(6.35%)、19(6.55%),年份之间检出率差异无显著统计学意义(χ2=0.07,P>0.05)。2009年中常染色体结构异常中的平衡易位比例均高于其他种类,差异具有显著统计学意义(χ2=16.35,P<0.01)。结论:舟山地区平衡易位占常染色体结构异常的比例较高,应加强对此类咨询者的检查、追踪及随访。
Objective：To analyse the relationship of chromosomal abnormalities and clinical diseases in Zhoushan district.Methods： The peripheral blood samples from 792 genetic counseling patients were obtained and their lymphocytes were detected by G-banding and chromosome analysis.Results： The total frequency of chromosomal abnormality was 6.31%（50/792）.The frequencies of chromosomal abnormality of 2009（6.00%）,2010（6.35%）,2011（6.55%） were not significantly different from each other（P0.05）.In 2009,the frequency of balanced translocation in abnormal euchromosome structure was significantly higher than other types in abnormal euchromosome structure（χ2=16.35,P0.01）.Conclusion： The high frequency of balanced translocation in abnormal euchromosome structure should be given more attention.Synthetical therapy and long follow-up should be performed to these patients.
出处
《中国卫生检验杂志》
北大核心
2012年第9期2124-2126,2129,共4页
Chinese Journal of Health Laboratory Technology
关键词
染色体异常
核型分析
遗传咨询
Chromosomal abnormalities
Karyotyping
Genetic counseling
