Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH).

ABSTRACT:

Objectives

Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation.

Materials and methods

Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was performed using 8% polyacrylamide gel. Candidate gene was sequenced after gene linkage supported at highly polymorphic microsatellite markers of the diseased region.

Results

Both families were initially tested for linkage to known genes, which were involved in human hereditary hypotrichosis, by genotyping Highly polymorphic microsatellite markers. Family B showed partial linkage at P2RY

SUBMITTER: Abbas S 

PROVIDER: S-EPMC4242915 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature