一个Ⅱ型轴前多指家系的基因突变检测

摘要

Objective To detect potential mutation in a large pedigree affected with preaxial polydactyly Ⅱ.Methods With informed consent obtained,peripheral blood samples were collected from the proband and other available members,as well as 100 healthy controls.Genomic DNA was extracted.The zone of polarizing activity regulatory sequence (ZRS) of the SHH gene was amplified by PCR and subjected to bi-directional Sanger sequencing.Results The pedigree had typical preaxial polydactyly Ⅱ.A heterozygous C＞G mutation at position 105 of the ZRS region was detected in all patients but not among the unaffected members and the 100 healthy controls.Conclusion The heterozygous 105C＞G mutation of the ZRS region probably underlies the disease in this pedigree.%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.