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Table 5 Genetic screening of the complement system

From: Atypical hemolytic uremic syndrome

Gene

Location

Method of choice for mutation screening

Number of exons

CFH

RCA, Chr 1q32

Direct sequencing analysis

22

CFI

Chr 4q25

Direct sequencing analysis

13

MCP

RCA, Chr 1q32

Direct sequencing analysis

14

C3

Chr 19p13.3

Direct sequencing analysis

42

CFB

Chr 6p21.3

Direct sequencing analysis

18

THBD

Chr 20p11.2

Direct sequencing analysis

1

  1. Chr, chromosome; CFH, factor H; CFHR1, factor H-related protein 1; CFI, factor I; MCP, membrane cofactor protein; CFB, factor B; THBD, thrombomodulin.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172