Mutation analysis in a large Chinese pedigree affected with preaxial polydactyly II / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To detect potential mutation in a large pedigree affected with preaxial polydactyly II.@*METHODS@#With informed consent obtained, peripheral blood samples were collected from the proband, her family members as well as 100 healthy controls. Genomic DNA was extracted. The zone of polarizing activity regulatory sequence (ZRS) of the SHH gene was amplified by PCR and subjected to bi-directional Sanger sequencing.@*RESULTS@#The pedigree had typical preaxial polydactyly II. A heterozygous C>G mutation at position 105 of the ZRS region was detected in all patients but none of the unaffected members and 100 healthy controls.@*CONCLUSION@#The heterozygous 105C>G mutation of the ZRS region probably underlies the disease in this pedigree.