SPTB基因杂合突变致遗传性球形红细胞增多症1例  

Hereditary spherocytosis caused by SPTB gene hybrid mutation:a case report

作　　者：温雪 张志华[1] 张荣娟[1] 郝长来[1] Wen Xue;Zhang Zhihua;Zhang Rongjuan;Hao Changlai(Department of Hematology,Affiliated Hospital of Chengde Medical University,Chengde 067000,China)

机构地区：[1]承德医学院附属医院血液内科,河北承德067000

出　　处：《临床荟萃》2021年第11期1019-1023,共5页Clinical Focus

基　　金：河北省自然科学基金资助项目组蛋白脱乙酰化酶抑制剂对多发性骨髓瘤细胞Notch通路影响的研究(H2013406112)。

摘　　要：回顾性分析1例遗传性球形红细胞增多症(hereditary spherocytosis,HS)患者的临床资料,利用SWISS-MODEL软件对SPTB基因突变进行蛋白结构预测并文献复习。患者因贫血就诊,血常规提示血细胞三系减少,基因测序分析,患者SPTB基因杂合突变c.5551C>T(exon26,NM_001355436),为自发突变。蛋白质结构预测结果为c.5551C>T(p.Q1851X)位点变异导致蛋白截断突变。同时合并ANK1基因杂合突变c.1495G>T(p.A499S),突变位点来自父亲,为非致病基因。Retrospective analsis concerned with the clinical data of a patient with hereditary spherocytosis(HS),and SWISS-MODEL software used for protein structure prediction of SPTB gene mutation.The literatures were reviewed.Blood routine of the patient in clinic showed anemia,RBC,WBC and platelet decreased.Gene sequencing analysis proved that heterozygous mutation of SPTB gene c.5551C>T(exon26,NM_001355436)underwent spontaneous mutation.Protein structure prediction was c.5551C>T(p.Q1851X)mutation caused protein truncation mutation,and merged with heterozygous mutation of ANK1 gene c.1495G>T(p.A499S).The mutation site was agnate source,and non-pathogenic gene was confirmed.

关 键 词：球形红细胞增多 遗传性 SPTB基因 ANK1基因 蛋白质结构预测 

分 类 号：R556.61[医药卫生—血液循环系统疾病]