Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people
Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people
复制标题
DOI：
10.1007/s10038-005-0293-1
复制
发表时间：
2005-11-01
影响因子：
3.5
通讯作者：
Yasukawa, M
中科院分区：
文献类型：
--
作者：
Yamamoto, K;Ishii, E;Yasukawa, M
尽管在家族性噬血细胞性淋巴组织细胞增多症（FHL）儿童中发现了穿孔素、MUNC13-4和突触蛋白11基因突变，但每种基因亚型的发生率在不同种族中存在差异。我们评估了 30 名日本 FHL 患者的突触融合蛋白 11 和 SNAP23 基因突变。这些患者没有突变，10%的患者有一种突触蛋白11多态性（146G>A），而没有观察到SNAP23突变。我们的结果表明 SNARE 系统的畸变可能不会导致日本家庭的 FHL。
Although mutations of perforin, MUNC13-4 and syntaxin 11 genes have been found in children with familial hemophagocytic lymphohistiocytosis (FHL), the incidence of each genetic subtype varies in different ethnic groups. We evaluated mutations of syntaxin 11 and SNAP23 genes in 30 Japanese FHL patients. The patients had no mutations and 10% had one polymorphism (146G > A) of syntaxin 11, while no mutation of SNAP23 was observed. Our results indicate that aberrations in the SNARE system may not cause FHL in Japanese families.