Genetics and deficiences

Topic questions:

1) Genetic variability in the human genome

2) Type of questions in complement genetics

3) Experimental design in complement genetics

4) Materials and methods in complement genetics

5) Genetic variations and its impact in complement function


Reading materials:

Hageman et al., A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. (2005) Proc Natl Acad Sci U S A. 102:7227-32.

Goicoechea de Jorge et al., Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. (2007) Proc Natl Acad Sci U S A. 104:240-5.

Venables et al., Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med. 3:e431.