成都地区2745例遗传咨询者的细胞遗传学分析  

Cytogenetic study on 2745 genetic consultants in Chengdu

作　　者：胡誉 

机构地区：[1]四川省成都市妇幼保健院遗传室,610031

出　　处：《中国妇幼保健》2008年第25期3589-3591,共3页Maternal and Child Health Care of China

摘　　要：目的:分析遗传咨询人群中染色体异常的类型和发生频率,探讨染色体核型分析在优生遗传咨询中的重要意义。方法:采用外周血培养常规技术,并结合多种显带方法对核型异常者进行分析。结果:2745例遗传咨询者中,染色体核型异常者138例,检出率为5.03%;随体区及异染色质区段变异43例,占1.57%;另25例发现存在单个细胞染色体结构畸变,占0.91%。结论:遗传咨询群体应视为染色体异常高危人群,对其进行染色体检查具有重要意义。随体区变异、异染色质区段变异及单个细胞染色体结构异常的临床意义不容忽视。Objective： To analyze the type and incidence of chromosomal abnormalities among genetic consultants, and investigate the significance of analysis of chromosomal karyotype applied in genetic counsel Methods： Routine culture for the peripheral blood lymphoeytes of 2 745 genetic consultants were made and bands karyotype were analysed. Results： The overall incidence of chromosomal abnormality was 5.03% （ 138/2 745） . 43 cases （ 1.57% ） with mutation in satellite zone and heterochromatic zone were found. 25 cases （0. 91% ） had somatic mutation. Conclusion： Cytogeneties detection is necessary for genetic eounselees, which can be helpful for prenatal diagnosis. It is necessary to detect mutation in satellite zone and heterechromatie zone and somatic mutation.

关 键 词：遗传咨询 细胞遗传学 染色体 

分 类 号：R394[医药卫生—医学遗传学]