Autosomal recessive disease

An autosomal recessive disease is a disease controlled by a recessive pathogenic gene located on an autosome, and only individuals with a recessive homozygote develop the disease. Because the causative gene is recessive, individuals with heterozygotes and dominant homozygotes appear normal. Such as glycogen deposition disease type I, patients due to the lack of glucose-6-phosphatase in the body, so glycogen can not be broken down into glucose 6-phosphate and cause glycogen deposition. Only individuals with genotype gg will be pathogenic. When a couple is a carrier (that is, the genotype is Gg), there is a 1/4 chance that the offspring will develop the disease. The ratio of normal individuals to patients in the offspring was 3: 1.