What is Mendelian genetic disease?

summary

Mendelian genetic disease, also known as monogenic disease, is a kind of genetic disease controlled by an allele or a pathological trait. As long as a single gene mutation occurs in the human body, it is enough to cause the disease. What is Mendelian genetic disease? Let's talk about it

What is Mendelian genetic disease?

Autosomal dominant genetic diseases, such as polydactyly, syndactyly, achondroplasia. Autosomal recessive diseases, such as sickle cell anemia, albinism, congenital deafness, phenylketonuria.

3. With x-dominant genetic diseases, such as vitamin D-resistant rickets, pendulum nystagmus. With X recessive genetic diseases, such as color blindness, hemophilia, progressive muscular dystrophy, hemangioma. With y genetic diseases, such as external auditory canal hirsutism. Mitochondrial disease: the pathogenic gene is in the cytoplasm, only inherited by the mother.

Selective prenatal screening of ethnic, racial or regional populations can sometimes detect carriers of special types of Mendelian genetic diseases, such as sickle cell anemia, familial amaurosis and thalassemia. Screening of newborns may also find that their parents are carriers of other metabolic diseases, However, the family history of these patients is usually negative, while the family history of other patients may be positive, especially in patients with autosomal dominant or X-linked recessive diseases. The physical examination of both couples often shows Mendelian inheritance.

matters needing attention

To prevent the occurrence of genetic diseases. The proportion of children born to close relatives with mental retardation is 150 times higher than that born to non close relatives, and the deformity rate is more than three times higher. The law of the State forbids the marriage of lineal blood and collateral blood within three generations. Those who have a history of genetic diseases or congenital malformations, who have been in the family for many times, or who have given birth to mentally retarded children or repeated spontaneous abortion, should carry out genetic counseling to find out the causes, make a clear diagnosis, and formulate a reasonable marriage and birth plan.