Chan Koon-Wing, Lee Tsz-Leung, Chung Brian Hon-Yin, Yang Xiqiang, Lau Yu-Lung
Department of Paediatrics, The University of Hong Kong, Hong Kong.
Hum Mutat. 2002 Aug;20(2):151-2. doi: 10.1002/humu.9048.
The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indicated that the mutated genotypes are also highly variable. In this study, we performed PCR-direct sequencing analysis of the WAS gene in six unrelated Chinese families. Five novel mutations identified, included two nonsense mutations (506C-->T, 1388-->T), a small insertion (685-686insCGCA) and two single-base deletions (384delT, 984delC). All of the mutations are predicted to lead to premature translational termination of WASP.
威斯科特-奥尔德里奇综合征（WAS）是一种X连锁隐性免疫缺陷病，由编码WAS蛋白（WASP）的基因突变引起。该疾病的特征为湿疹、血小板减少和严重免疫缺陷，并伴有广泛的临床异质性。突变研究表明，突变基因型也具有高度变异性。在本研究中，我们对6个无血缘关系的中国家庭的WAS基因进行了PCR直接测序分析。共鉴定出5个新突变，包括2个无义突变（506C→T，1388→T）、1个小插入突变（685-686insCGCA）和2个单碱基缺失突变（384delT，984delC）。所有这些突变预计都会导致WASP过早终止翻译。
