HPS1 GENE : ITS MUTATION AND FUNCTION

点击翻译按钮获取中文摘要

We were able to perform mutation analysis of six cases with Hermansky-Pudlak syndrome in Japan. The first case was a 2-year-old girl with oculocutaneous albnism, and pulmonary hemorrhage when delivery. Mutation analysis of tyrosinase and P revealed normal. She has heterozygous frameshift muation in exon 11 in the mutation hotspot. The second case was 18-year-old boy with OCA and bleeding tendency. He was compound heterozygous for IVS5 +5 G>A and 962-963insG.Giant melanosomes were shown in the epidermal melanocytes by electronmicroscopy. The third case was 49-year-old woman with OCA and pulmonary fibrosis. She was homozygous for IVS5 +5 G>A, splice site mutation. The fourth case was 35-year-old man with OCA and renal dysfunction. He was homozygous for IVS1-9C>T, but this turned out to be non-pathological by studying 50 normal controls. The fifth case was 70-year-old man withOCA and pulmonary fibrosis. He was all normal for HPS1. The sixth case was OCA and pulmonary fibrosis, and was homozygous for IVS5 +5G>A, splice site mutation. For those in which we cannot detect mutations in HPS1 gene, we are collaborating with Professor Richard Spritz in the University of Colorado, who recently cloned two new Hermansky-Pudlak syndrome genes (HPS3 and HPS4), to see whether these cases might fall into these new categories.