DefinePK

Abstract

Autosomal recessive oculocutaneous albinism (OCA) is a heterogeneous group of disorders caused by complete absence or reduction of melanin biosynthesis in the melanocytes. This hypopigmentation can result in mutation due to abnormalities in biosynthetic pathways of melanin. There are six genes which are known for different OCA (OCA1-7). OCA have different types depending upon mutations in different chromosomes. OCA1A is most severe of all types. Present study involves two consanguineous families (A and B), from Jatlan, District Mirpur Azad Kashmir. Affected individual were examined for the presence of malformations (other than OCA) and history of metabolic disorders. To identify the causative genes, homozygosity mapping was carried out in both families A and B, by genotyping with microsatellite markers linked to currently known OCA loci. After linkage analysis, it is determined that linkage to OCA1-OCA7 was conclusively excluded in both families “A” and “B”. It illustrates that any other identified loci or any probable novel loci may involve.
Keywords: Autosomal recessive oculocutaneous albinism; OCA1; OCA7; Linkage Analysis
http://dx.doi.org/10.19045/bspab.2016.50014