散在型多指（趾）畸形中HOXD13基因分析

Analysis of HOXD13 gene in polydactyly in dispersion type

目的 通过对中国福建地区汉族散在的多指（趾）、短指畸形患者中HOXD13基因的分析,了解其是否存在基因突变.方法 采集2012年12月至2013年4月在福建医科大学附属第一医院整形外科接受治疗的多指（趾）和短指畸形患者6例,以及其父母、祖父母、外祖父母和本科室医务人员在内的正常志愿者40例外周血标本,常规提取基因组DNA;采用聚合酶链反应、琼脂糖凝胶电泳方法及DNA序列分析法,对6例散在型患者及40例正常志愿者HOXD13基因进行分析.结果 6例患者均无家族史,其中5例HOXD13基因第1外显子发生c.291C ＞T（p.A60A）杂合同义突变,1例短指患者及40例志愿者均未发现有HOXD13基因突变.结论 中国汉族散在型多指（趾）畸形的出现,可能与HOXD13基因的高频杂合同义突变c.291C＞T（p.A60A）有关.

Objective To analyze HOXD13 gene in polydactyly in dispersion type of Fujian Han population in order to know whether there is mutation in HOXD13.Methods All members were evaluated physically and radlologically.Genomic DNA was extracted from peripheral blood of the patients who were treated from Dec.2012 to Apr.2013,their parents,grandparents,and normal volunteers from our department.The polymerase chain reaction （PCR）,agarose gel electrophoresis and DNA sequence analysis were adopted to analyze HOXD13 from six cases with polydactyly and forty normal volunteers.Results All patients had no family history.A heterozygous synonymous mutation,c.291 C 〉 T（p.A60A）,was detected in exon 1 of the HOXD13 Gene in five of the polydactyly patients.Similar mutation was not detected in one brachy dactyly patient and the forty normal volunteers.Conclusion A heterozygous synonymous mutation,c.291C 〉 T（p.A60A）,of the HOXD13 gene may be related with polydactyly in dispersion type of Chinese han population.