Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

ABSTRACT:

Background

Tyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene. The gene product plays a role in regulating the pH of melanosomes. Up to now, hundreds of OCA2 mutations have been reported and novel variants are still being discovered.

Methods

In this study, we reviewed the records of OCA2 patients who had conducted albinism genetic testing, and then analyzed the clinical and genetic information of 28 OCA2 patients who had been genetically diagnosed by using Sanger sequencing and next-generation sequencing.

Results

In this study, we reported 31 variants screened from 28 Chinese

SUBMITTER: Ma L 

PROVIDER: S-EPMC8544823 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature