DefinePK

Abstract

Hypotrichosis is a heritable condition described by sparse hairs, sparse to absent eyebrows, eyelashes, axillary, and body hair, but with normal teeth and nails. Genotyping was carried out of family from fourth generation from district Sibi, Balochistan, having two affected males and one female. Genotyping was done targeting LPAR6-linked microsatellite markers present on chromosome 13q14.11-q21.32. The exon located on LPAR6 gene, were amplified of both affected and normal individuals of the family revealing linkage at locus on chromosome 13.  Sequencing result of the LPAR6, shown a recurrent missense mutation c.436G>A, p. G146R) in a family. A recurrent missense mutation revealed in the current investigation encompass the evidence of LPAR6 gene hereditary hypotrichosis.
Keywords:  Hereditary hypotrichosis; LPAR6 gene; Missense mutation
http://dx.doi.org/10.19045/bspab.2017.60072