DefinePK

Abstract

Hypotrichosis or alopecia is a medical term used for hair loss deformities i.e. disorders of hair follicles such as the ones occurring during hair formation and/or growth. Localized hereditary hypotrichosis is an autosomal recessive form of non-syndromic alopecia, and the clinical phenotype is sparse hair on the body and axillary areas and can affect both males and females. Till date, four loci for this type of hypotrichosis have been reported which are present on an autosomal chromosomes 18q12.1, 3q27.2, 13q14.11 and 10q12, respectively. Here we present an identified recurrent locus for autosomal recessive form of hypotrichosis, in a family from Lasbella district of Balochistan province, Pakistan. DNA samples from four normal and two affected individuals were used for genotyping and DNA assay with polymorphic microsatellite markers were tested for already identified loci. Analysis of DNA samples with DNA markers D13S153, D13S165 and D13S118, revealed that these markers were heterozygous in normal individuals and homozygous in affected individuals but it established linkage to previously known LAH3locus on chromosome 13q14.11.
Keywords: Hypotrichosis; LAH3; Autosomal recessive
http://dx.doi.org/10.19045/bspab.2017.600112