1 例儿童先天性粒细胞减少症的基因诊断.pdf

· 44 · 临床儿科杂志第 31 卷第 1 期 2013 年 1 月 J Clin Pediatr
doi: - ·论著·
1 例儿童先天性粒细胞减少症的基因诊断
王波1 卢俊1 乔曼2 严文华1 薛胜利2
1. 苏州大学附属儿童医院(江苏苏州 215003);2. 苏州大学附属第一医院江苏省
血液研究所卫生部血栓与止血重点实验室(江苏苏州 215006)
摘要: 目的应用基因诊断方法进一步提高对儿童先天性粒细胞减少症(CN) 的认识和诊断水平。方法以1例
患者为研究对象,收集其临床资料、实验室检查结果,按序检测ELA2、GFI1、HAX1及WASp致病基因突变情况。
依上述步骤对患儿分别进行疾病的临床及基因诊断并随访。结果参照诊断标准该患儿诊断为无遗传背景的散发性非
;基因检测显示其携带已经报道的ELA2基因突变:>A;此外患儿中性粒细胞表面G-CSFR表达正常,
G-CSFR胞内段未发现获得性截短性突变。结论为ELA2基因突变所致,为该患儿未来的
分组临床研究及基因治疗提供依据。[临床儿科杂志,2013,31(1):44-47]
关键词: 先天性粒细胞减少症; 基因诊断; ELA2基因
中图分类号: R725 文献标志码: A 文章编号: 1000-360 (2013) 01-0044-04
ic diagnosis of a child with congenital neutropenia WANG Bo1, LU Jun1, QIAO Man2, YAN Wenhua1, XUE
Shengli2 ( Children's Hospital Affiliated to Soochow University, Suzhou 215003, Jiangsu, China; Institute of
Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow
University, Suzhou 215006, Jiangsu, China)
Abstract: Objective To improve the understanding and diagnosis of congenital neutropenia (CN) in children by the use
of gene mutation analysis. Methods Clinical data and laboratory results of a child suspected were collected. ELA2, GFI1,
HAX1, and WASp genes were sequenced. Clinical and ic diagnosis of the child was made according to the above ste