UCSD Cystine Determination Laboratory

Home» Cystinosis Info»Cystinosis Genetics

GENETICS OF CYSTINOSIS

C = normal gene / non-cystinosis gene
c = recessive gene /cystinosis gene

Cc = carrier / heterozygote / no cystinosis
CC = non carrier / no cystinosis
cc = cystinosis

This is the pattern of autosomal recessive inheritance.
Carriers have normal health. If two people who are carriers for the cystinosis gene have a child there is a :