摘要
目的探讨遗传病与染色体异常的关系。方法采用外周血淋巴细胞培养,常规法制备染色体标本,G显带,镜下核型分析。结果分析延安市遗传咨询者211例的外周血染色体,发现异常核型19例,占9.00%。其中,常染色体异常14例,性染色体异常5例。结论染色体异常是导致遗传病的重要原因之一,对遗传咨询者进行染色体检查,不仅对优生优育、提高遗传素质有重要意义,而且为遗传病防治提供重要依据。
Objective To study the relationship between anomaly of chromosome and genetic disease. Methods We used common method to culture the peripheral lymphocytes and got chromosome samples. After G-banding, chromosomal karyotypes were analysed in microsope. Results We analysis the 211 people genetic counseling peripheral lymphocytes chromoseme. Chomosomal abnormal kanruyotypes were found 19 cases （9.00%）. Among 19 cases autosomal abnormal are 14 cases, sex chromosome abnormal are 5 eases. Conclusion Anomaly of chromosomes is one of the important reasons with lead to genetic disease. To detect the chromosomes of people of genetic counceling. It is not only to help well-born and well-educate and improve genetic predisposition, but also to supply important references for genetic disease treatment.
出处
《延安大学学报（医学科学版）》
2006年第1期3-4,共2页
Journal of Yan'an University:Medical Science Edition
关键词
遗传咨询
遗传病
异常核型
病因分析
genetic counseling
genetc disease
anomaly of chromosome
analyse the oregin of the disease
