Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients / 中国应用生理学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the patients' genotypes and the mutation spectrum of Tyrosinase (TYR) gene and the effects on protein structure and function in oculocutaneous albinism type 1 (OCA1).</p><p><b>METHODS</b>The polymerase chain reaction (PCR) and sequencing techniques were applied to amplify and analyze the regions of exon, exonintron and promoter of TYR gene of 15 OCA1 probands and some of their parents. The protein structure and function were forecasted and analyzed by bioinformatics software.</p><p><b>RESULTS</b>Sequencing result showed 11 kinds of mutations, including 5 missense mutations (W400L, R299H, E294K, R77Q and K142M), 3 nonsense mutations (R116X, R278X and G295X), 2 insertion mutation (929insC and 232insGGG) and 1 splice site mutation (IVS1-3C > G). The nosogenesis was related to the change of protein structure and function in four pathological mutations.</p><p><b>CONCLUSION</b>It seemes that W400L is the frequent mutations, which accounted for about 30.0% in Chinese mainland OCA1 alleles. It is doable to make some reasonable interpretation about TYR gene nosogenesis by bioinformatics method.</p>