HOXD13蛋白N-端非多聚丙氨酸延展突变导致并多指(趾)家系表型的分析

Phenotype Analysis of A Pedigree with Synpolydactyly Caused by N-terminal Non Polyalanine Extension Mutation of HOXD13 Protein

目的:对一并多指(趾)家系进行基因突变检测,以期发现致病基因突变。方法:提取家系可追溯到的并多指(趾)患者外周血的基因组DNA。以特异的引物经聚合酶链反应扩增HOXD13基因的两个外显子及外显子/内含子交界区域,然后对PCR产物直接进行测序。BLAST比对分析家系患者HOXD13基因序列。突变导致的氨基酸改变位点在不同物种的保守性分析。结果:BLAST比对分析发现患者突变为c.64G>T(p.A22S),该突变位点在不同生物中高度保守。结论:c.64G>T(p.A22S)可能为该家系的致病突变。

Objective:To find out the mutation of pathogenic gene,the gene mutation of a pedigree with synpolydactyly was detected.Method:Genomic DNA from peripheral blood of patients with traceable polydactyly was extracted.Two exons and exon / intron junction regions of HOXD13 gene were amplified by polymerase chain reaction with specific primers,and then the PCR products were sequenced directly.BLAST was used to compare the HOXD13 gene sequence of patients with genebank sequence.Evolutionary conservation of amino acids flanking the mutations were analyzed.Result:The comparative analysis of BLAST revealed that the patient was mutated to c.64G > T (p.A22S),which was highly conserved in different organisms.Conclusion:c.64G > T (p.A22S) may be a pathogenic mutation in this family.