Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

ABSTRACT:

Background

Sequence analysis of the regulators of complement activation (RCA) cluster of genes at chromosome position 1q32 shows evidence of several large genomic duplications. These duplications have resulted in a high degree of sequence identity between the gene for factor H (CFH) and the genes for the five factor H-related proteins (CFHL1-5; aliases CFHR1-5). CFH mutations have been described in association with atypical haemolytic uraemic syndrome (aHUS). The majority of the mutations are missense changes that cluster in the C-terminal region and impair the ability of factor H to regulate surface-bound C3b. Some have arisen as a result of gene conversion between CFH and CFHL1. In this study we tested the hypothesis that nonallelic homologous recombination between low-copy repea

SUBMITTER: Venables JP 

PROVIDER: S-EPMC1626556 | biostudies-literature | 2006 Oct

REPOSITORIES: biostudies-literature