摘要
目的探讨9号染色体倒位和重复的临床效应。方法应用常规细胞遗传学方法分析患者核型,用流式细胞术分析男性患者精子染色体的倍性组成。结果检测出inv(9)核型,其配子流式分析中发现DNA量异常增加和减少的细胞群。结论结合资料分析,认为inv(9)会产生遗传物质部分重复或缺失的配子,导致不同的临床效应,对可能涉及的基因进行了总结分析。
Objective:To investigate the clinical effects for pericentrlc inversions of chromosome 9 in human.Methods:Using the Karyotyping for chromosome analysis and Flow CytoMeter for gametes DNA content analysis.Results:inv(9) is detected and the increasing and decreasing is exsited in DNA content measurement.Conclusions:Patial deletion and duplication will be produced in gametes from the parental inv(9),they show the different clinical effects.The related genes are summaried.
出处
《中国优生与遗传杂志》
2012年第4期59-61,共3页
Chinese Journal of Birth Health & Heredity
关键词
9号染色体
倒位
流式细胞术
核型分析
Chromosome 9
Peficentfic inversion
Flow CytoMeter
Karyotype