Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.

ABSTRACT:

Background

Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the TYR, OCA2, TYRP1 and SLC45A2 genes have been shown to cause isolated OCA. No comprehensive analysis has been conducted to study the spectrum of OCA alleles prevailing in Pakistani albino populations.

Methods

We enrolled 40 large Pakistani families and screened them for OCA genes and a candidate gene, SLC24A5. Protein function effects were evaluated using in silico prediction algorithms and ex vivo studies in human melanocytes. The effects of splice-site mutations were determined using an exon-trapping assay.

Results

Screening of the TYR gene revealed four known (p.Arg299His, p.

SUBMITTER: Jaworek TJ 

PROVIDER: S-EPMC3537634 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature