摘要
Hermansky-Pudlak综合征是白化病综合征的一种，呈常染色体隐性遗传，具有高度遗传异质性。目前。国际上已经报道8种亚型（HPS1—8），其中HPS1最常见。HPS1基因与小鼠灰耳基因（pale ear，ep）同源，基因定位于10q23.1-23.3。HPS1基因编码一种由700个氨基酸残基组成的蛋白质，其功能尚未清楚。迄今为止，国际上报道了23种HPS1基因突变和至少23种DNA多态性。基因的分子病理学研究为HPS1临床确诊和产前诊断奠定了基础。
Objective： Hermansky -Pudlak syndrome （HPS）, one type of the syndromic albinism, is an autosomal recessive disorder, which is obvious genetically heterogeneous. Eight genetically distinct subtypes of HPS are known in humans （HPS1 - 8）, HPS type 1 is the most common. HPS1 gene is homologous to mouse pale ear gene and locates on chromosome segment 10q23. 1 - q23.3. HPS1 gene codes for 700 - amino - acide, and its exact funtion is not clear. So far , 23 pathologic mutations and at least 23 polymorphisms have been reported internationally. And the gene research lays a foundation for the clinical diagnose and prenatal diagnose of Hermansky - Pudlak syndrome type 1.
出处
《中国优生与遗传杂志》
2006年第12期122-123,119,共3页
Chinese Journal of Birth Health & Heredity
基金
广东省自然科学基金(04009328)
广东省医学科研基金(A2005345)
广州市科技局应用基础研究计划(2004J1-C0112)
