24. Mutational analysis of Sonic Hedgehog (SHH) gene in Polydactyly families from Balochistan, Pakistan

Abstract

Polydactyly (PD) is the most frequent inherited limb abnormal development, featuring extra digits in feet and/or hand. Polydactyly is omnipresent and has been found in other species of kingdom animalia and others including, horses, dogs & pigs. The current study was conducted with main aim to analyze and sequence the causative gene responsible for autosomal recessive malformation, namely Polydactyly in affected individuals from Balochistan, Dermatology and Venerolgy Department, Sandemn Provincial Hospital (SPH) Quetta, from 1^st of May 2018 to 30^th of November 2018. The samples (blood) were obtained from affected and normal individuals from four families and extracted Genomic DNA from blood samples by Inorganic method followed by DNA dilution, Gel Electrophoresis, Polymerase Chain Reaction (PCR) and DNA sequencing. The sequencing data failed to identify the disease causing mutation in the coding region and splice site junctions of SHH gene. Our results suggest that the disease-causing mutation in the studied families with polydactyly may be present in the other known gene, i.e. GLI3. It is also possible that the polydactyly in these four families is caused by mutation in a novel gene. An additional study is required to explore mutations in other genes (FGF4, FGF8, and WNT7a) which will additionally strengthen our knowledge about characteristics of polydactyly on the level of its molecular genetics especially in Balochistan.

Keywords: Polydactyly; Quetta; Sandemn Provincial Hospital; SHH gene

http://dx.doi.org/10.19045/bspab.2021.100083