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Monogenic genetic disease refers to a disease that occurs when a single gene mutates.

disease

According to the nature and chromosome of pathogenic genes, it can be divided into autosomal diseases (dominant and recessive), X-linked diseases (dominant and recessive) and Y-linked diseases.

And mitochondrial diseases (maternal inheritance).

Single-gene genetic diseases of nervous system can be divided into the following four types according to their genetic forms.

Species: (

l

) autosomal dominant inheritance means that the genetic gene is located on the autosome and has a strong penetrance. The most common. Self-applied nucleic acid electrophoresis technology, recombinant DNA

Technology and complementary DNA

Since the probe method, more and more genetic disease genes have been discovered, and more of them belong to autosomal dominant inheritance forms. The characteristics of this genetic form are as follows: ①

There are patients from generation to generation; ②

The patient's parents are often patients; ③

There are about 1 among the compatriots.

/

2

Is a patient; ④

Men and women have the same chance of getting sick. The autosomal dominant genetic form is also influenced by the alleles of both parents, and its offspring appear complete dominance, incomplete dominance, irregular dominance (that is, intergenerational phenomenon in some families) and * * * dominance. (

2

) autosomal recessive genetic pathogenic genes are located on autosomes, and only when the genes are homozygous are the carriers of heterozygous pathogenic genes. This genetic form has the following characteristics: ①

Sick parents are not sick but carriers; ②

There are about 1 among the compatriots.

/

four

Patient, 1

/

four

Normal, 2

/

four

Be a carrier; ③

Equal opportunities for men and women to get sick; ④

You can't see the inheritance of successive generations, but you can see the inheritance of alternating generations or generations; ⑤

When close relatives get married, the risk of illness of offspring is greatly increased. (

three

)

X

The linked recessive genetic pathogenic gene is located in X.

On the chromosome. When women are homozygote and men are hemizygote, they will get sick. If the mother is heterozygous, the father is normal, and if the offspring are female, 1.

/

2

As a carrier, 1 12

Normal. If it is a man, it is 1

/

2

For patients, 1

/

2

Normal. The characteristics of its genetic form are as follows: ①

The patients are mainly men, and most diseases do not see female patients; ②

Both parents of male patients have no disease, and their pathogenic genes are inherited from the carrier's mother; ③

There may be patients among the patients' brothers, uncles, nephews and cousins; ④

The patient's grandfather may also be a patient, and his uncles did not get sick at this time. (

four

)

X

Linkage dominant inheritance, the genetic gene is located in X.

On the chromosome. When the female is heterozygote and the male is hemizygote, it can show clinical symptoms. The characteristics of this genetic type are as follows: ①

Women suffer more than men, and 2% of them are men.

Times; ②

One of the patient's parents must be a patient; ③

The daughters of male patients are all patients and their sons are normal; ④

Every girl has 1.

/

2

Is a patient; ⑤

You can see the inheritance of successive generations.