Monogenic genetic disease
Monogenic diseases refer to diseases caused by single gene mutation, which are mainly divided into autosomal dominant genetic diseases, autosomal recessive genetic diseases, X chromosome linked dominant genetic diseases, X chromosome linked recessive genetic diseases and Y chromosome linked genetic diseases.
Autosomal dominant genetic disease
Characteristics: Men and women have equal genetic opportunities, and people with pathogenic genes can get sick.
situation
1. Heinz's Chorea: It usually occurs after the age of 20. The patient's mood fluctuated at the onset, followed by dance movements, and his intelligence continued to decrease. He died 4-20 years after onset.
2. Chondrodysplasia: The patient's upper arm and thigh are short and deformed, the abdomen is bulging, the buttocks are kyphosis, and the figure is short.
3. Polydactyly: one of the common malformations in pediatrics, with more fingers or toes than ordinary people.
Autosomal recessive genetic disease
Features: Equal opportunities for men and women to get sick. The parents of patients are carriers, and the chances of getting sick are higher if their close relatives get married.
situation
1. Albinism: The patient's skin, hair and iris are short of melanin, some patients have slanting light, strabismus and nystagmus, and a few patients have mental retardation.
2. congenital deafness: Lack of genes with normal hearing, hearing development disorder. I can't hear other people's voices, and I can't learn to speak.