当前位置: 首页 > 新闻 > 信息荟萃
编号:10866403
Researchers in Guangzhou find additional gene for
http://www.100md.com 2006年2月8日 中国医学论坛报
     A paper entitled "Hermansky-Pudlak syndrome is caused by HPS4 gene mutation" was published in the electronic edition of Nature Genetics in February 11th, 2002, which highlighted a fourth gene of lethal albinism. Before long, site cloning of the three genes leading to this syndrome, HPS1, HPS2 and HPS3 were carried out by the American scientists.

    Dr. Li Wei of Sun Yat-Sen University Medical College, one of the chief members accomplished the study recommended that clinically there are eight types of albinism, among them Hermansky-Pudlak syndrome (HPS) is the most hazardous. This type is an autosomal recessive inherited disease which is able to result in the prolongation of bleeding time, albinism, and the symptoms of colloid deposition in lysosomes. Cases of lethal albinism are mostly seen in the European and American countries and more than 200 cases have already been reported in Japan. However, in China there is as yet no such report possibly due to poor knowledge of this disease among physicians., http://www.100md.com