Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

被引：258

作者：

Richards, A

Buddles, MR

Donne, RL

Kaplan, BS

Kirk, E

Venning, MC

Tielemans, CL

Goodship, JA

Goodship, THJ

机构：

[1] Univ Newcastle Upon Tyne, Sch Clin Med Sci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[2] Univ Newcastle Upon Tyne, Sch Biochem, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[3] Univ Newcastle Upon Tyne, Sch Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[4] Childrens Hosp Philadelphia, Div Nephrol, Philadelphia, PA 19104 USA

[5] Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW, Australia

[6] Free Univ Brussels, Erasme Hosp, Dept Nephrol, B-1050 Brussels, Belgium

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 68卷 / 02期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1086/318203

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Several recent studies have established an association between abnormalities of complement factor H (FH) and the development of hemolytic uremic syndrome (HUS). To identify the relative importance of mutations in FH as a cause of HUS, we have undertaken mutation screening of the FH gene in 19 familial and 31 sporadic patients with FH. Mutations were found in two familial and three sporadic patients, and these clustered in exons 18-20, a domain important for host recognition. Moreover, this study demonstrates that familial HUS is likely to be a heterogeneous condition.

引用

页码：485 / 490

页数：6

共 28 条

[1] Human factor H deficiency - Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism [J].