CAJ | 학술논문

目的明确一个常染色体显性遗传并多指(趾)家系的致病基因突变,为产前诊断提供依据.方法对该家系成员进行详细的临床检查,确定肢端畸形的类型.通过系谱分析确定其遗传方式.采集家系成员外周血,提取基因组DNA.通过文献复习,选择与肢端发育异常有关的HOXD13作为候选基因进行突变检测.应用PCR扩增与Sanger测序,对患者进行突变检测.通过TA克隆及琼脂糖凝胶电泳进一步验证突变.结果分析家系图谱与临床特征,确定该家系为一常染色体显性遗传并多指(趾)家系.突变检测发现,家系患病成员HOXD13基因第1外显子内插入了27 bp,从而导致其编码的多聚丙氨酸链中被插入了9个丙氨酸残基,而家系正常成员则无此突变.结论该常染色体显性遗传并多指(趾)家系的致病突变为HOXD13基因多聚丙氨酸链的延展突变.
목적 명학일개상염색체현성유전병다지(지)가계적치병기인돌변,위산전진단제공의거.방법 대해가계성원진행상세적림상검사,학정지단기형적류형.통과계보분석학정기유전방식.채집가계성원외주혈,제취기인조DNA.통과문헌복습,선택여지단발육이상유관적HOXD13작위후선기인진행돌변검측.응용PCR확증여Sanger측서,대환자진행돌변검측.통과TA극륭급경지당응효전영진일보험증돌변.결과 분석가계도보여림상특정,학정해가계위일상염색체현성유전병다지(지)가계.돌변검측발현,가계환병성원HOXD13기인제1외현자내삽입료27 bp,종이도치기편마적다취병안산련중피삽입료9개병안산잔기,이가계정상성원칙무차돌변.결론 해상염색체현성유전병다지(지)가계적치병돌변위HOXD13기인다취병안산련적연전돌변.
Objective To detect potential mutation in a Chinese family affected with autosomaldominant synpolydactyly and to provide the basis for prenatal diagnosis.Methods Inheritance pattern was determined by clinical examination and pedigree analysis.Blood samples were obtained from members of the family.Genomic DNA was extracted and sequenced following PCR amplification.Suspected mutation was confirmed by subclone sequencing and agarose gel electrophoresis.Results A 27 bp expansion mutation in exon 1 of HOXD13 was identified in all affected individuals from the family but not in unaffected members and normal controls.The mutation has caused insertion of 9 alanines in the polyalanine-expansion region of HOXD13 protein.Conclusion A polyalanine-expansion within the HOXD13 probably underlies the disease in this family.