一个Ⅱ型轴前多指家系的基因突变检测
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2019)
Abstract
目的 检测1个Ⅱ型轴前多指家系的基因突变.方法 收集先证者及其家系成员的临床资料及外周血样本.用试剂盒提取基因组DNA,用PCR扩增SHH基因的调控元件“极化活性区调控序列”(zone of polarizing activity regulatory sequence,ZRS),对PCR产物进行双向Sanger测序,以确定致病突变位点.结果 该家系表现为典型的Ⅱ型轴前多指.基因检测结果提示家系中患者均携带ZRS第105位的C>G杂合突变,在家系的正常成员及100例正常对照中均未发现相同的突变.结论 SHH基因调控元件ZRS内第105位C>G杂合突变是该家系的致病原因.
MoreTranslated text
Key words
Preaxial polydactyly Ⅱ,Zone of polarizing activity regulatory sequence,Mutation
AI Read Science
Must-Reading Tree
Example
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined