Genetic analyses of Chinese patients with digenic oculocutaneous albinism

• DOI: 10.3760/cma.j.issn.0366-6999.20121104
• Publication Date: 2024-01-16T17:40:12Z
• Authors: Ai-hua WEI; Xiu-min YANG; Shi LIAN; Wei LI
• Keywords: Oculocutaneous albinism

Background Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder in all populations worldwide. The mutational spectra of OCA are population-specific. Some patients carry mutations from different genes. In this study, we investigated the frequency digenic Chinese patients. Methods Genomic DNAs were extracted blood samples 184 clinically diagnosed 120 unaffected subjects. amplified DNA segments exons exon-intron boundaries screened for TYR, OCA2, TYRP1, SLC45A2, HPS1 by direct sequencing. To exclude previously unidentified alleles polymorphisms, controls sequenced same regions variations. Results patients, 134 had two pathologic on one locus. Eleven cases no apparent any genes studied. Among remaining 39 who only mutation, five (2.7% total) found to second locus OCA2 or SLC45A2. Of four as patient OCA1. A previous allele p.G188D SLC45A2 was identified, which not present controls. Conclusions identification suggests synergistic roles among during melanin biosynthesis, may cause under mutations. This information will be useful gene diagnosis genetic counseling China. Chin Med J 2013;126 (2): 226-230