Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

ABSTRACT:

Background

Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for most oculocutaneous albinism. However, the incidence of oculocutaneous albinism patients in Guangxi remains unclear.

Methods

To evaluate the molecular basis of oculocutaneous albinism in thirty-six patients in Guangxi, China. Peripheral venous blood samples were collected from these unrelated patients. The TYR and OCA2 genes of all individuals were analyzed by direct DNA sequencing and the sequences compared with are reference database and bioinformatics analysis.

Results

Among the 36 OCA patients, 8(22.2%) were found

SUBMITTER: Yang Q 

PROVIDER: S-EPMC6567650 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature