Molecular Confirmation of G1138A Mutation in FGFR gene in Achondroplasia.

ABSTRACT:

Introduction

Achondroplasia is the most common form of skeletal dysplasia of genetic origin in humans which is characterized by disproportionate rhizomelic dwarfism. Heterozygous mutation in the transmembrane domain of the FGFR3 gene (4p16.3) occurs as a de novo mutation in most of the cases.

Methods

DNA was isolated from seven samples, out of which, five had clinical features of Achondroplasia while one was dwarf but did not show symptoms of the disorder and one as negative control. PCR was performed for the region incorporating the hotspot region viz. 1138th nucleotide. PCR amplicon of size 164 bp was obtained from all the samples, and was sequenced.

Results

Sequence analysis showed the presence of mutation (G to A transition) in all of the five samples. The five sa

SUBMITTER: Khanal SB 

PROVIDER: S-EPMC8997281 | biostudies-literature | 2018 Mar-Apr

REPOSITORIES: biostudies-literature