What are the genetic diseases of human beings? And common cases?

A disease in which a fertilized egg or mother is affected by the environment or heredity, resulting in abnormal gene formation, is called a genetic disease. Such as albinism, color blindness, mental retardation, schizophrenia, flatfoot and deformity. . . . Close relatives or related couples can also give birth to genetic diseases. It used to be difficult to diagnose and treat, and a few serious diseases were inherited. The closer the blood relationship between parents is, the more serious the genetic disease will be. The farther the blood relationship, the less harm. Genetic diseases are divided into family genetic diseases and common genetic diseases.

Genetic defects are mainly divided into five types: physical defects, intellectual defects, mental defects, developmental defects and functional defects. According to the basic principle that life is mutated on the genetic basis, children born between brothers and sisters can't be adults, because both parents have the same genetic basis, and future generations will not be able to get mutations, which will lead to idiots and mental retardation. , that is, chromosome defects. Schizophrenia and depression are obvious mental defects. These patients have lost their civil capacity and labor force, and the effect of drug treatment is shallow. Although the blood relationship between the two sides is very close, there are still many differences in their genetic basis, and some variations will occur in their offspring. Patients with intelligence but no capacity for civil conduct are actually manifestations of mental illness. Through the continuous intervention of molecular genetics and life sciences in medicine, human genetic diseases will eventually be diagnosed and treated.

Hereditary diseases are not always familial, and the descendants of patients with hereditary diseases may not necessarily go to atavism. If the offspring take the initiative to choose a genetic disease that has nothing to do with their blood relationship and has no * * * in marriage, the offspring will evolve from generation to generation and eventually become normal. Hereditary diseases usually have lifelong characteristics.

Monogenic genetic disease: it is a relatively mild genetic disease, without stupidity, disability and lethality. This disease is not directly caused by three generations of close relatives, but by the offspring of marriage or serious genetic diseases surpassing three generations after several generations of evolution. The allele of 1 disease was deleted or distorted by 1, and thousands of monogenic diseases were found, such as congenital amblyopia, strabismus, myopia, deafness, body odor, olfactory blindness, color blindness, premature senility, congenital asthma, varicose veins, glaucoma, flatfoot, syndactyly, six-toe deformity, hemophilia, skin freckles and hirsutism. Multiple tuberculosis, osteogenesis imperfecta, psoriasis, hypercholesterolemia, polycystic kidney disease, neurofibroma, retinoblastoma, peroneal muscular atrophy, achondroplasia, ptosis, albinism, xeroderma pigmentosum, ichthyosis, nystagmus, retinitis pigmentosa, vitamin D resistant rickets, etc.

Polygenic genetic diseases; Each disease is related to the deletion or distortion of multiple pairs of genes, and has certain heritability, mainly related to fertility (within three generations, except siblings). There are not many diseases, but the harm to people is relatively heavy. Such as psychosis, schizophrenia, depression, phobia, spina bifida, anencephaly, cleft lip, cleft palate and various malformations.

Chromosome disease: (genetic disease caused by chromosome abnormality) is mainly the product of incest between brother and sister. Hundreds of kinds. Including congenital stupidity, Turner syndrome, Creutzfeldt-Jakob syndrome, meow syndrome, hermaphroditism, Down syndrome and so on. It is fatal, stupid and disabling.

3. Multifactorial diseases: diseases with multiple factors, such as diabetes, hypertension, tumor and cancer.

One of the most effective methods is to prohibit consanguineous marriage or childbirth:

Couples with a history of genetic diseases also need genetic counseling, prenatal diagnosis, gene diagnosis, genetic disease screening, gene cloning and organ reconstruction.

If the spouse is related by blood, childbearing should be prohibited.

Genetic diseases are often tested in middle schools:

Conventional dyeing recessive inheritance:

Albinism congenital deaf-mute phenylketonuria sickle anemia

X recessive inheritance:

Progressive muscular dystrophy, red-green blindness, hemophilia

Autosomal dominant genetic diseases:

Chondrodysplasia of polydactyly and syndactyly

X dominant genetic disease:

Anti-vitamin d rickets

Y-type hereditary hirsutism of external auditory canal

Congenital Idiot with Chromosome Abnormality (2 1 Trisomy Syndrome)

Multifactorial disease

1. Hypertension

Genetic risk: ★★★★★★★

Most scholars believe that hypertension is a multifactorial genetic disease, and heredity plays a major role. Through the family survey of hypertensive patients, it is found that the probability of their children suffering from hypertension in the future is as high as 45%; If one parent suffers from hypertension, the probability of children suffering from hypertension is 28%; The probability of normal blood pressure in children is only 3%.

Principle of prevention and control

1. Keep monitoring blood pressure, normally at least 1 time every year.

4. Limit salt and supplement potassium. Gradually control the daily salt intake to 5g, and eat more fruits and vegetables rich in potassium (such as bananas, walnuts, lotus seeds, parsley, amaranth, spinach, etc.). ).

3. Prevent overweight and obesity.

Quit smoking and limit alcohol.

diabetes

Genetic risk: ★★★★★★★

Diabetes has obvious genetic susceptibility (especially the most common type 2 diabetes in clinic). Family studies have found that the prevalence of diabetes in people with positive family history is significantly higher than that in people with negative family history. Children whose parents have diabetes are 15 ~ 20 times more likely to have diabetes than ordinary people.

Principle of prevention and control

The "external causes" of diabetes are excessive calorie intake, reduced activity, obesity, smoking and excessive psychological pressure. On the contrary, avoiding these factors can prevent diabetes. In terms of diet, it is necessary to achieve a reasonable mix of grain, meat, eggs, milk, vegetables and fruits, and pay attention to the balance between intake and consumption. Always measure your weight. If you gain weight, you will definitely eat too many calories. At this time, you should review your diet and increase exercise.

3. Dyslipidemia

Genetic risk: ★★★★

There are many reasons for abnormal blood lipid metabolism, one of which is genetic factors. With the development of medicine, it is found that a considerable number of patients with dyslipidemia have one or more genetic defects.

Principle of prevention and control

The most important thing is to emphasize "open your legs and shut up". On the one hand, diet should be properly restricted, but the types of food should be as rich as possible. Low-fat foods (vegetable oil, yogurt) should be selected, vitamins and cellulose (fruits, vegetables, bread and cereals) should be increased, and weight should be controlled. At the same time, strengthen exercise, so that calories are consumed, so as not to accumulate fat in the body.

4. Breast cancer

Genetic risk: ★★★★

Breast cancer has obvious familial genetic tendency. Epidemiological investigation shows that 5% ~ 10% of breast cancer is familial. If a close relative has breast cancer, the risk will increase by 1.5 ~ 3 times; If two close relatives have breast cancer, the prevalence rate will increase seven times. The younger the onset age, the greater the risk of breast cancer in relatives.

Principle of prevention and control

People with a family history of breast cancer should pay special attention to self-examination to find clues to breast cancer and treat it as soon as possible. Breast lump is the most common sign of breast cancer, which is different from breast hyperplasia lump, often single, irregular in shape, hard in texture, poor in mobility, mostly painless, and has no obvious relationship with menstrual cycle. In addition, if you find nipple eczema, pus and shrinkage, you should also pay attention to it and go to the hospital for further examination.

5. Gastric cancer

Genetic risk: ★★★★

The survey found that the average risk of first-degree relatives (parents, brothers and sisters) of patients with gastric cancer is three times higher than that of the general population. Take the famous Napoleon family as an example. His grandfather, father and three sisters all died of stomach cancer. Seven people in the whole family, including himself, suffered from stomach cancer.

Principle of prevention and control

Risk factors of gastric cancer include lack of physical exercise, smoking, preference for smoked food, preference for heavy salt diet, excessive meat intake, Helicobacter pylori infection and gastric ulcer. Favorite fungi and fresh fruits are the protective factors of gastric cancer. It is worth noting that the phenomenon of family aggregation of gastric cancer may be related to the co-infection of Helicobacter pylori. People with a family history of gastric cancer should go to the hospital to monitor whether there is such bacterial infection, and if there is, they should be treated in time.

colorectal cancer

Genetic risk: ★★★★

Colorectal cancer caused by familial inheritance accounts for 10% ~ 15% of the total number of patients with colorectal cancer. People with colorectal cancer patients in their relatives are 3-4 times more likely to suffer from this disease than ordinary people. If two or more close relatives (parents or siblings) in the family have colorectal cancer, their risk of colorectal cancer is high.

Principle of prevention and control

People with a family history of colorectal cancer should eat more fresh food, less pickled and smoked food, less moldy food, less alcoholic drinks and quit smoking. If you have the following symptoms, you should go to the hospital for examination in time:

① The defecation habit changes, the frequency of defecation increases, or diarrhea and constipation appear alternately. ② Purulent bloody stool or mucus stool. ③ The stool becomes thinner and deformed, and defecation is laborious. ④ There is a feeling of defecation, but no defecation.

⒎ lung cancer

Genetic risk: ★★★

Foreign research institutions conducted a follow-up survey of120,000 Japanese middle-aged and elderly people for as long as 13 years. Among them, 79 1 case of lung cancer appeared. The researchers compared lung cancer patients with non-lung cancer patients and found that the former was twice as likely to get sick as the latter. This is particularly evident among women.

Principle of prevention and control

The occurrence of lung cancer is closely related to smoking, especially people with a history of hereditary lung cancer, so they must stay away from tobacco and passive smoking. If you have symptoms such as irritating cough and blood in sputum, especially the above-mentioned high-risk groups, you should seek medical attention as soon as possible. If early detection and standardized treatment can be achieved, the cure rate of lung cancer can reach 70%.

⒏ Asthma

Genetic risk: ★★★★★★★

Most scholars believe that the genetic factors of asthma are greater than the environmental factors. If both parents suffer from asthma, the probability of their children suffering from asthma can be as high as 60%; If one parent suffers from asthma, the probability of the child suffering from asthma is 20%; If neither parent has asthma, the probability of children suffering from asthma is only about 6%. In addition, if family members and their relatives suffer from allergic diseases such as allergic rhinitis, skin allergy or food and drug allergy, it will also increase the possibility of asthma in future generations.

Principle of prevention and control

Adult asthma often occurs in childhood, and early treatment in childhood is the key to reduce the incidence in adulthood. People with a family history of asthma should avoid all kinds of environmental factors that lead to asthma, such as inhalation of various allergic substances (allergens), respiratory virus and bacterial infections, smoking and air pollution, which play a role in triggering and aggravating the onset and aggravation of asthma. Usually, we should do a good job in cleaning the living room, living and working environment, quit smoking, and actively prevent and treat respiratory infections in time.

9. depression

Genetic risk: ★★★★★★★

Many studies have found that the occurrence of depression is closely related to genetic factors and congenital genetic basis.

Principle of prevention and control

Prevention and treatment of depression should focus on early detection, early diagnosis and early treatment. If you often feel depressed, lose weight obviously, lose sleep or sleep too much, fidget, lose concentration, have suicidal thoughts, etc. You should go to the hospital for examination and treatment in time.

5. Alzheimer's disease

Genetic risk: ★★★★

After long-term research, scientists found that Alzheimer's disease is a polygenic genetic disease. The study found that patients with Alzheimer's disease in their parents or brothers were four times more likely to develop Alzheimer's disease than patients without family history.

Principle of prevention and control

If you have a family history of Alzheimer's disease, you should have a check-up after the age of 50 to see if you have mental retardation, so as to take some measures to treat it in time.

Depression, loneliness, low level of education and language, widowed and unmarried, not participating in social activities and lack of physical and mental activities can also easily lead to Alzheimer's disease.

The incidence of the above genetic diseases adds up to about 30%, and there is an increasing trend year by year. Therefore, it can no longer be said that genetic diseases are rare diseases in general. Preventing the birth of children with genetic diseases is an important eugenic means to improve the quality of China population.

Most genetic diseases are incurable.

Because modern medicine can't change the genes of people who have been born, and it can't make genes. Therefore, as long as the gene is deleted or distorted, it cannot be cured. However, some diseases can be alleviated by continuous medication.

dietotherapy

Some hereditary diseases can be prevented by controlling diet, so as to get therapeutic effect. For example, the pathogenesis of phenylketonuria is the lack of phenylalanine hydroxylase, which leads to the accumulation of phenylalanine and phenylpyruvate in the body and causes diseases, which may lead to mental retardation or idiots in children. However, if the diagnosis is accurate, it is best to start prevention and treatment at 7- 10 days after birth, and give the baby a low phenylalanine diet within 3 months after birth, such as rice, Chinese cabbage, spinach, potatoes and mutton, which can promote the normal growth and development of the baby. Wait until the children grow up and go to school, and then relax the restrictions on diet appropriately.

For another example, in all provinces south of the Yangtze River in China, 5% people suffer from hereditary glucose -6- phosphate dehydrogenase deficiency. In Linqing, this disease is characterized by hemolytic anemia, which can be life-threatening in severe cases. This kind of patients are particularly sensitive to broad beans, which can cause acute hemolytic anemia after eating them, so it is also called "silkworm bean disease". Broad beans and their products should be strictly fasted for such patients. At the same time, the disease can also cause drug-induced hemolysis, infectious hemolysis and hereditary non-spherical cell hemolytic anemia, so we must be cautious when using drugs at ordinary times.