【摘要】 目的对儿童先天性并多指(趾)(SPD)畸形进行HOXD13基因突变鉴定,了解SPD与HOXD13基因突变的相关性。方法根据患儿体征和手足X线片进行临床诊断,提取患儿基因组DNA,针对HOXD13基因外显子设计聚合酶链反应(PCR)引物,PCR扩增21例散发性SPD患儿HOXD13外显子并测序,测序结果与美国国立生物技术信息中心(NCBI)数据进行比对,分析突变位点。结果测序结果显示,21例散发性SPD患儿中,有2名患儿分别携带有2种新型HOXD13基因突变,即c.32 G>C(G11A)和c.64 G>T(A22S)。结论 HOXD13基因突变可能与部分Ⅱ型SPD发生相关。更多还原

【Abstract】 Objective To identify the mutations of homeobox D13(HOXD13)causing synpolydactyly(SPD)in affected Chinese children.Methods Twenty-one patients with synpolydactyly were diagnosed by clinical history,physical examination and X-ray.Genomic DNA was extracted from the patients by the standard routine method.Polymerase chain reactionCPCR)primers were designed according to the exons of HOXD13 gene and fragments containing hot mutation spots of HOXD13 of every patient were amplified by PCR,followed by sequencing analysis.Sequencing analysis results were compared with those on National Center for Biotechnology Information(NCBI)database and the mutation spots were analyaed.Result Comparing the normal HOXD13 sequence,two new mutations[c.32G>C(G11A)and c.64 G>T(A22S)]were discovered from two patients,which were never reported previously.Conclusion Synpolydactyly may also be caused by these two new mutations in sporadic patients.更多还原