Modern medical research has proven that, except for trauma, almost all diseases are related to genes. Just like blood is divided into different blood types, normal genes in the human body are also divided into different genotypes, that is, genetic polymorphisms. Different genotypes have different sensitivities to environmental factors, and sensitive genotypes can cause diseases under the influence of environmental factors. In addition, abnormal genes can directly cause diseases, and the diseases that occur in this case are genetic diseases.
When it comes to genetic diseases, this is a huge medical topic. I may need to write another book to explain it clearly. According to statistics collected by Professor Mckusick, a well-known genetic disease expert in the United States, there are more than 4,000 known genetic diseases Species are divided into three categories: single-gene genetic diseases, polygenic genetic diseases, and chromosomal diseases.
Single-gene genetic diseases refer to genetic diseases controlled by a pair of alleles, there are more than 6,600 kinds, and the number is increasing at a rate of 10 to 50 every year. Single-gene genetic diseases have posed a great threat to human health. The more common ones include red-green color blindness, hemophilia, albinism, etc.
Polygenic genetic diseases are genetic diseases caused by the cumulative effect of genetic information through two or more pairs of disease-causing genes, its genetic effects are mostly affected by environmental factors. Compared with single-gene genetic diseases, polygenic genetic diseases are not determined solely by genetic factors, but by a combination of genetic factors and environmental factors.
Chromosome abnormality genetic disease (referred to as \”chromosome disease\”) refers to the abnormal number and morphological structure of chromosomes, which can occur in on each chromosome. Chromosomal abnormality genetic diseases account for more than 50% of spontaneous abortions, stillbirths, and premature deaths, and the incidence rate among newborns is about 1%. They are an important cause of sexual development abnormalities, male and female infertility, and infertility. They are also congenital heart diseases. One of the important causes of disease and intellectual retardation. Based on data from many countries, approximately 15% of pregnancies occur, and half of them are caused by chromosomal abnormalities, that is, about 5% to 8% of embryos have chromosomal abnormalities. But at birthBefore, more than 90% had spontaneous abortion or stillbirth. The earlier the miscarriage occurs, the higher the frequency of chromosomal abnormalities.
Hereditary diseases in the conventional sense refer to diseases that are completely or partially determined by genetic factors. They are often congenital and can also develop acquired diseases. Such as congenital stupidity, polydactyly (toes), congenital deafness and mute, hemophilia, etc. These genetic diseases are completely determined by genetic factors, and they only develop after a certain period of time after birth. Sometimes it takes several years, ten years or even several years. Obvious symptoms may not appear until ten years later.
The most common genetic diseases we hear about are: albinism (autosomal recessive inheritance), hemophilia (X chromosome recessive inheritance), vitamin D-resistant rickets (X chromosome dominant inheritance), benzene Pyketonuria (autosomal recessive inheritance), congenital deafness (autosomal recessive inheritance), progressive muscular dystrophy (X chromosome recessive inheritance), color blindness (X chromosome recessive inheritance), external auditory canal hirsutism ( Y chromosome recessive inheritance), thalassemia (autosomal recessive inheritance), congenital neural tube malformation (polygenic inheritance), congenital dementia (chromosomal variation of genetic material), achondroplasia (autosomal dominant inheritance) And pseudomuscular dystrophy, congenital adrenal hyperplasia, mucopolysaccharidosis, etc.
These genetic diseases are usually far away from us, but many people are not aware that some familiar common diseases have a certain probability of being inherited. According to relevant data, it is estimated that 3 to 10 out of every 100 newborns suffer from genetic diseases of varying degrees.
Let me briefly talk about common genetic diseases and their prevention and treatment principles.
Hypertension
Mentioning common genetic diseases, Hypertension should be regarded as a disease with a high genetic probability. Many contemporary scholars believe that hypertension is a polygenic genetic disease. Statistics show that if both parents have high blood pressure, the probability of their children developing high blood pressure in the future is as high as 45%; if one parent has high blood pressure, the probability of their children developing high blood pressure is 28%; and if both parents have normal blood pressure, their children will have high blood pressure. The probability is only 3%. It can be seen that the genetic probability of hypertension, the most common disease, is also quite high.
For people with a genetic risk of hypertension, even if they do not have any symptoms, they should monitor their blood pressure at least once a year, limit salt and supplement potassium, and gradually control their daily salt intake to 5 grams. At the same time, eat more fruits and vegetables rich in potassium (such as bananas, walnut kernels, lotus seeds, coriander, amaranth, spinach, etc.). You should also prevent obesity and refuse tobacco and alcohol.
Diabetes
Diabetes, like hypertension, is a disease with high Common diseases with probabilistic genetic risks are also oftenThe high genetic risk is overlooked. Diabetes has obvious genetic susceptibility (especially type 2 diabetes, which is the most common clinical type). Studies have found that people with a positive family history of diabetes have a significantly higher prevalence of diabetes than people with a negative family history. If both parents have diabetes, their children are 15 to 20 times more likely to develop diabetes than ordinary people.
The probability of a child developing diabetes depends on the type of diabetes the parents have. If both parents have type 1 diabetes, the probability of inheritance will increase to 1/4. Type 2 diabetes is a type of diabetes that is related to weight and is more heritable. If one parent has type 2 diabetes, the genetic probability is 1/7 to 1/3; but if both parents have type 2 diabetes, the genetic probability increases to 1/2.
In fact, the prevention and treatment of diabetes is similar to that of high blood pressure. The external factors that induce diabetes include excessive calorie intake, low activity, obesity, smoking, and excessive psychological stress. These are minefields for people with a genetic risk of diabetes. They should avoid them and achieve a reasonable combination of grains, meat, eggs, milk, vegetables, and fruits. Pay attention to the balance between intake and consumption. Monitor your weight at any time and control your weight at a reasonable level. In the range.
Dyslipidemia
Hyperlipidemia, one of the diseases of modern affluence Although the genetic risk of this disease is slightly lower than that of hypertension and diabetes, it is one of the hereditary diseases that is often ignored by people. There are many causes of abnormal lipid metabolism, one of which is genetic factors. Studies have shown that a considerable number of patients with dyslipidemia have one or more genetic defects. Dyslipidemia caused by inherited gene defects often has familial aggregation and obvious hereditary tendencies. It is clinically known as familial dyslipidemia.
There are only six words to prevent and treat abnormal blood lipid metabolism: \”Open your legs and keep your mouth shut.\” Like diabetes, weight control and a reasonable diet are the key to preventing and treating this disease. However, the food variety should be as rich as possible, choose low-fat foods (vegetable oil, yogurt), and increase vitamins and fiber (fruits, vegetables, bread and cereals). , and strengthen exercise.
Breast cancer
Like abnormal blood lipid metabolism, it is easy to be ignored Hereditary breast cancer has a clear familial tendency. Epidemiological surveys have found that 5% to 10% of breast cancers are familial. If a close relative has breast cancer, the risk of the offspring will increase by 1.5 to 3 times; if two close relatives have breast cancer, the risk of the offspring will increase by 7 times. The younger the age of onset, the greater the risk of breast cancer in relatives. I have seen such a case in clinical practice: among the four mothers and daughters, three have been diagnosed with breast cancer and underwent treatment.The only daughter who survived the surgery was diagnosed with severe breast hyperplasia.
The most important prevention and treatment principle for those with a family history of breast cancer is to pay special attention to self-examination and \”early detection, early treatment.\” Breast mass is the most common sign of breast cancer. This kind of mass is different from breast hyperplasia. It is often single, irregular in shape, hard in texture, has poor mobility, is mostly painless, and has no obvious relationship with the menstrual cycle. In addition, if you find nipple eczema, discharge, or shrinkage, you should also pay attention and seek medical treatment in time.
Gastric cancer
Patients with gastric cancer have obvious familial aggregation. The survey found that the risk of first-degree relatives (i.e. parents, siblings) of gastric cancer patients is three times higher on average than the general population. The more famous ones are the Napoleon family. His grandfather, father and three sisters all died of gastric cancer. A total of 7 people in the entire family, including himself, suffered from gastric cancer.
Risk factors for gastric cancer include lack of physical exercise, mental depression, smoking, preference for smoked food, preference for heavy salt diet, excessive intake of meat, Helicobacter pylori infection, gastric ulcer, etc. Eating fungi and fresh fruits is a good protective factor for the stomach. It is worth noting that the familial aggregation phenomenon of gastric cancer may be related to co-infection with Helicobacter pylori. People with a family history of gastric cancer should go to the hospital to monitor whether they have this bacterial infection, and if so, treat them promptly.
Colorectal cancer
Colorectal cancer caused by family inheritance accounts for 10% of the incidence of colorectal cancer 10% to 15% of the total number of people. People who have relatives with colorectal cancer are 3 to 4 times more likely to develop the disease than ordinary people. If there are two or more close relatives (parents or siblings) in the family who have colorectal cancer, they are at high risk for colorectal cancer. crowd.
People with a family history of colorectal cancer should eat more fresh food, eat less pickled and smoked food, avoid moldy food, drink less alcoholic beverages, and quit smoking. If the frequency of defecation increases or diarrhea and constipation occur alternately, the stool contains pus, blood or mucus, the stool becomes thin and deformed, the stool is difficult to defecate, and there is a feeling of defecation but no symptoms of defecation, you should seek medical treatment in time.
Lung cancer
Foreign research institutions studied more than 102,000 middle-aged and elderly Japanese patients People conducted a 13-year follow-up investigation, and a total of 791 cases of lung cancer occurred among them. Researchers compared two groups of people with direct relatives who had lung cancer and those who did not have lung cancer. They found that the former were twice as likely to develop the disease as the latter. The hereditary nature of lung cancer is particularly evident in women.
People who have close relatives with lung cancer must stay away from tobacco and passive smoking., if symptoms such as irritating cough and bloody sputum occur, you should seek medical treatment in time. If early detection and standardized treatment can be achieved, the cure rate of lung cancer can reach 70%.
Asthma
At present, most scholars believe that the genetic factors of asthma are greater than Environmental factors, the genetic probability is quite high. If both parents have asthma, the probability of their children developing asthma can be as high as 60%; if one parent has asthma, the probability of their children developing asthma is 20%; if neither parent has asthma, the probability of their children developing asthma is only 6 %about. In addition, if family members and relatives suffer from allergic diseases such as allergic rhinitis, skin allergies, food or drug allergies, etc., it will also increase the possibility of offspring developing asthma.
Adult asthma mostly occurs in childhood, and early treatment in childhood is the key to reducing the incidence in adulthood. People with a family history of asthma should avoid various environmental factors that trigger asthma, such as inhaling various allergic substances (allergens), respiratory viral and bacterial infections, smoking, and air pollution. These factors trigger and contribute to the onset and exacerbation of asthma. role. Therefore, we should keep our living and working environment clean and tidy, quit smoking, and actively prevent and promptly treat respiratory infections.
Depression
In China, depression is easily ignored, and Its genetic nature is even less known. Many studies have found that the occurrence of depression is closely related to genetic factors. The probability of depression among relatives of patients with depression is much higher than that of the general population, about 10 to 30 times. Moreover, the closer the blood relationship, the higher the probability of depression. high. According to foreign reports, the probability of depression among relatives of patients with depression is: 14% for first-degree relatives (parents, compatriots, children), and 14% for second-degree relatives (uncles, uncles, aunts, aunts, uncles, grandparents or grandchildren, nephews) Nephews) are 4.8%, and third-degree relatives (cousins) are 3.6%.
The prevention and treatment of depression should focus on early detection, early diagnosis and early treatment. If you often feel depressed, have significant weight gain or loss, have insomnia or excessive sleep, restlessness, inability to concentrate, or have suicidal thoughts, etc., you should go to the hospital for examination and treatment in time.
Alzheimer\’s disease (commonly known as Alzheimer\’s disease)
Alzheimer\’s disease Heimer\’s disease is a very common disease. Some researchers have said that people who have received formal education have a 7 to 10-year delay in onset of disease compared to those who have not received education. They have long-term depression, live alone, have low education and language skills, are widowed and never remarried, and do not participate in social activities. Lack of physical and mental activities, etc.Also prone to Alzheimer\’s disease. After long-term research, scientists have discovered that Alzheimer\’s disease is a polygenic genetic disease. Studies have found that those who have a parent or brother with Alzheimer\’s disease are four times more likely to develop Alzheimer\’s disease than those who have no family history.
For people with a family history of Alzheimer’s disease, they should have more tests after the age of 50 for early detection and early treatment.
Skin Cancer (Melanoma)
Skin Cancer (Melanoma) It is an uncommon but very fatal disease. If one parent has melanoma, the child\’s probability of getting the disease is 2% to 3%; if both parents have melanoma, the probability increases to 5% to 8%; if a parent or a relative is If melanoma is diagnosed before the age of 50, the child is more likely to get the disease.
80% of skin lesions that lead to cancer occur before the age of 18. Therefore, people with genetic risks should avoid direct sunlight as much as possible.
Myopia
If both parents have had myopia since they were very young When myopia begins, the child\’s probability of developing myopia is more than 6 times higher than that of ordinary people. If a father or mother has amblyopia when they are young, the child is twice as likely to have amblyopia in the future.
For most children, vision diagnosis by a pediatrician is sufficient, but children with a family history of eye disease must be examined by an ophthalmologist. If a child has amblyopia, treatment will have the most significant effect if started before the age of 3, so it is particularly important to make an early diagnosis.
Other diseases
Obesity: Genetic factors account for 25% of the weight of obese people %~40%. If one parent is obese, the probability of a child being overweight is 40%; if both parents are obese, the probability increases to 70%.
Osteoporosis: A woman’s bone quality is very similar to her mother’s, and there is a genetic risk Women should pay attention to increasing their calcium and vitamin D intake.
Otitis media: If parents have long-term ear inflammation, the possibility of passing it on to their children is 60% to 70% %. Because my parents are veryIt may be inherited to the child\’s face shape or the structure of the Eustachian tube.
Erectile dysfunction:The two major factors causing erectile dysfunction are psychological factors and heart disease, Factors such as diabetes and high blood pressure, both of which are closely related to genetics.
Among these genetic diseases, the combined incidence of 10 genetic diseases such as hypertension, diabetes, dyslipidemia, breast cancer, gastric cancer, colorectal cancer, lung cancer, asthma, depression, and Alzheimer\’s disease is approximately It is 30%, and there is a trend of increasing year by year. Therefore, genetic diseases cannot be ignored, and the key is to make adequate preparations for pregnancy and prenatal check-ups to prevent the birth of children with genetic diseases. Because modern medicine cannot change the genes of people who have been born, as long as the disease-causing genes are still there, there is no cure. However, some diseases can be alleviated through medication.
This article is provided by Baidu Reading. It is excerpted from \”Very Good Pregnancy: You Can Get Pregnant by Doing This\” Author: Yu Yue\’e