Figure 2
From: A haplotype in CFH family genes confers high risk of rare glomerular nephropathies
Genetic analysis of three rare SNPs and other 15 common SNPs. (A) Locations of rare rs55807605 (CFH c.2509 G > A), rs61737525 (CFHR3 c.424 C > T) and rs57960694 (CFHR5 c.434 G > A) are presented with red asterisk, corresponding to three pairs of primers specific of RS gene loci, while 15 other common SNPs are in blue number notation. Genomic duplications including the different exons of CFH, CFHR3 and CFHR5 are color-coded. Exons are indicated as vertical lines. (B) Relative copy number of three fragments of CFH, CFHR3 and CFHR5 linked with these SNPs in patients and controls measured by real-time quantitative PCR and T-tests were used to quantify significant differences between patients and controls (P < 0.05). (C) Western blotting bands of CFH and CFHR3 protein among cases and healthy controls. Linkage disequilibrium plots show that (D) three rare SNPs and (E) 15 common SNPs are all in linkage disequilibrium in the CFH gene cluster (n = 208; Chinese Han population). Haplotype frequencies and crossover frequencies between blocks are shown in the schematic, respectively.
