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.