What's the matter with genetic metabolic disease?

summary

Genetic metabolic disease is a kind of genetic disease with defective metabolic function. Genetic diseases also have the cause of disease. It is usually manifested as mental retardation, anemia, vomiting, diarrhea, etc. During the internship, I saw some common knowledge about the disease in a medical book. I have some knowledge about this disease, and I'd like to share it with you.

What's the matter with genetic metabolic disease?

First: people who have studied biology know that people are inherited through genes in chromosomes. Some people think that they don't want to read it because they can't understand it. It's not as hard as you think. Put simply: there are 23 pairs (46) of chromosomes in human cells. Among them, 22 pairs are the same in men and women, called autosomal; The other pair is sex chromosome. There are two types of sex chromosomes, X and y. The female is XX chromosome, and the male is XY chromosome. Pathogenic genes can exist on autosomal, X or Y chromosome. It's just that the normal chromosome is abnormal.

Second, autosomal (recessive) inheritance. That is, the sick gene is recessive on the (autosomal) chromosome, that is, only when the genes provided by both parents have problems, the children will show the symptoms of the disease. Both parents of this kind of genetic disease are carriers of pathogenic gene. The children born have a quarter of the probability of getting sick, and the probability of getting sick is equal for men and women. Children have a half chance to become carriers of pathogenic genes and a quarter chance to become normal children.

Third: autosomal (explicit) inheritance, which is similar to autosomal (implicit) inheritance, is that the sick gene is dominant on the autosomal, and the parents are sick people, so the children born will be sick.

matters needing attention

X-linked genetic disease. It is a disease caused by a dominant pathogenic gene on the X chromosome. No matter boys or girls, the disease will happen as long as there are pathogenic genes. But because of the two X chromosomes, the incidence rate of women is about two times that of men. Because there is not a normal chromosome to cover up the role of men's disease, often heavier than women.