1、A disease caused by a change in genetic material before or during the formation of a fertilized egg is a genetic disease. Some genetic diseases can be seen at birth, and some genetic diseases are not visible at birth. They may be expressed for days, months, or even years and decades.
在受精卵形成之前或期间由遗传物质的变化引起的疾病是遗传疾病。一些遗传性疾病可以在出生时看到，一些遗传性疾病在出生时是不可见的。它们可以表达数天，数月甚至数年和数十年。
2、 Types of genetic diseases
遗传疾病的类型
3、 The genetic diseases can be divided into three categories by the procedures of alteration of genetic material involved:
遗传疾病可以通过改变所涉及的遗传物质的程序分为三类：
4、 One is chromosomal disease or chromosomal syndrome:
一种是染色体疾病或染色体综合征：
5、 The change in genetic material appears as a number or structural change at the chromosome level (what child is chromosome Y). Because of the cumulative number of chromosomal genes, there are very serious symptoms that can cause multi-organ, multi-system distortion and functional changes.
遗传物质的变化表现为染色体水平的数量或结构变化（儿童是Y染色体）。由于染色体基因的累积数量，存在非常严重的症状，可导致多器官，多系统扭曲和功能变化。
6、 The second is monogenic disease:
第二种是单基因疾病：
7、 There are more than 5 single-gene diseases that have been discovered so far. The main diseases are caused by mutations of single genes, which are caused by mutations in dominant genes and recessive genes, respectively. A gene in a allele (a gene on the same locus on a pair of chromosomes) that causes a disease is a dominant gene. Only when a pair of alleles are simultaneously mutated can the causative gene be a recessive gene.
迄今为止已发现超过5种单基因疾病。主要疾病是由单个基因的突变引起的，这些突变分别由显性基因和隐性基因的突变引起。导致疾病的等位基因（一对染色体上相同基因座上的基因）中的基因是显性基因。只有当一对等位基因同时突变时，致病基因才能成为隐性基因。
8、 The third is polygenic disease:
第三种是多基因疾病：
9、 means very clear, multiple genes work is polygenic disease, and it is different from monogenic diseases, these genes have no dominant and recessive relationship, is each The effect of gene micro-effects is cumulative, so different people may have different severity of disease and recurrence due to the same number of pathogenic genes that may be involved. For example, the cleft lip is light and heavy, and some people are accompanied by cleft palate. One thing to pay special attention to is that polygenic diseases are not only related to heredity, but also affected by environmental factors, so they are called multifactorial diseases. Common polygenic diseases include: asthma, cleft lip, schizophrenia, hypertension, congenital heart disease, epilepsy, etc.
意思很清楚，多基因的工作是多基因疾病，它不同于单基因疾病，这些基因没有显性和隐性关系，是每种基因微效应的作用是累积的，因此，不同的人可能由于可能涉及的相同数量的致病基因而具有不同的疾病严重程度和复发。例如，唇裂轻且重，有些人伴有腭裂。需要特别注意的一点是，多基因疾病不仅与遗传有关，而且还受环境因素的影响，因此被称为多因素疾病。常见的多基因疾病包括：哮喘，唇裂，精神分裂症，高血压，先天性心脏病，癫痫等
10、 How to prevent genetic diseases?
如何预防遗传性疾病？
11、 1, premarital health check
1，婚前健康检查
12、 men and women with stable relationship, should do a comprehensive system of health check before the marriage certificate (importance of pre-pregnancy check). It is absolutely impossible to get married in close relatives. If a close relative gets married, the offspring have a lower probability of being mentally retarded, congenital malformations, and various genetic diseases than those who are not close relatives.
男女关系稳定，应在结婚证前做好综合健康检查制度（孕前检查的重要性）。在近亲结婚是绝对不可能的。如果近亲结婚，后代的智力低下，先天性畸形和各种遗传疾病的概率低于不是近亲的。
13、 2, consulting pre-pregnancy inheritance
2，咨询孕前遗传
14、 Both men and women or one of them, if there is a genetic history in relatives, it is necessary to consider whether children with the same genetic disease will be born after marriage, to ask them in detail whether they can get married, whether marriage will have serious consequences, etc.; If one of the two parties has a disease, but does not know whether it is hereditary, how likely is it to pass on to future generations? The doctor will make a correct judgment on this situation and inform the proper treatment.
男性或女性或其中一人，如果亲属有遗传病史，有必要考虑是否有相同遗传病的孩子将在婚后出生，详细询问他们是否可以结婚，婚姻是否会产生严重后果等等; 如果双方中的一方患有疾病，但不知道它是否具有遗传性，那么它有多大可能传给后代？医生会对这种情况作出正确的判断，并告知正确的治疗方法。
15、 3, prenatal screening
3，产前检查
16、 for some diseases that currently do not have a good treatment method will use prenatal screening, this method is to prevent the birth of defective children. Check the pregnancy from 16 weeks to 20 weeks, and take 2-3 ml of pregnant women's peripheral blood for examination. If high risk is found (high risk factor exceeds 1/270), further amniocentesis should be taken to confirm the diagnosis. Get the most accurate results.
对于目前尚无良好治疗方法的一些疾病，将采用产前筛查，这种方法是为了防止有缺陷的孩子的出生。检查怀孕16周至20周，并检查2-3毫升孕妇的外周血。如果发现高风险（高风险因子超过1/270），应采取进一步的羊膜穿刺术来确诊。获得最准确的结果。
17、 Genetic disease is not an incurable disease
遗传性疾病不是无法治愈的疾病
18、 In the past, genetic diseases were considered to be incurable. Now, as long as the research on the pathogenesis of genetic diseases is thorough, it is possible to find a suitable treatment method. At present, patients with genetic diseases with symptoms can achieve improvement or cure through diet, medicine, surgery and other therapies. Therefore, genetic diseases are not terrible, as long as they are cured by proper diagnosis.
过去，遗传性疾病被认为是无法治愈的。现在，只要对遗传性疾病的发病机理进行深入研究，就有可能找到合适的治疗方法。目前，患有症状的遗传性疾病患者可以通过饮食，药物，改善或治愈 手术和其他疗法。因此，遗传性疾病并不可怕，只要它们通过适当的诊断治愈即可。
19、 If one of the two parties has a disease, but does not know whether it is hereditary, how likely is it to pass on to future generations? The doctor will make a correct judgment on this situation and inform the proper treatment.
如果双方中的一方患有某种疾病，但不知道它是否具有遗传性，那么它有多大可能传给后代？医生会对这种情况作出正确的判断，并告知正确的治疗方法。
20、 3, prenatal screening
3，产前筛查
21、 for some diseases that currently do not have a good treatment method will use prenatal screening, this method is to prevent the birth of defective children. Check the pregnancy from 16 weeks to 20 weeks, and take 2-3 ml of pregnant women's peripheral blood for examination. If high risk is found (high risk factor exceeds 1/270), further amniocentesis should be taken to confirm the diagnosis. Get the most accurate results.
对于目前尚未有良好治疗方法的一些疾病，将采用产前筛查，这种方法是为了防止有缺陷的孩子的出生。检查怀孕16周至20周，并检查2-3毫升孕妇的外周血。如果发现高风险（高风险因子超过1/270），应采取进一步的羊膜穿刺术来确诊。获得最准确的结果。
22、 Genetic disease is not an incurable disease
遗传性疾病不是无法治愈的疾病
23、 In the past, genetic diseases were considered to be incurable. Now, as long as the research on the pathogenesis of genetic diseases is thorough, it is possible to find a suitable treatment method. At present, patients with genetic diseases with symptoms can achieve improvement or cure through diet, medicine, surgery and other therapies. Therefore, genetic diseases are not terrible, as long as they are cured by proper diagnosis.
过去，遗传性疾病被认为是无法治愈的。现在，只要对遗传性疾病的发病机理进行深入研究，就有可能找到合适的治疗方法。目前，患有症状的遗传性疾病的患者可以通过饮食，药物，手术和其他疗法实现改善或治愈。因此，遗传性疾病并不可怕，只要它们通过适当的诊断治愈即可。
24、 If one of the two parties has a disease, but does not know whether it is hereditary, how likely is it to pass on to future generations? The doctor will make a correct judgment on this situation and inform the proper treatment.
如果双方中的一方患有某种疾病，但不知道它是否具有遗传性，那么它有多大可能传给后代？医生会对这种情况作出正确的判断，并告知正确的治疗方法。
25、 3, prenatal screening
3，产前检查
26、 for some diseases that currently do not have a good treatment method will use prenatal screening, this method is to prevent the birth of defective children. Check the pregnancy from 16 weeks to 20 weeks, and take 2-3 ml of pregnant women's peripheral blood for examination. If high risk is found (high risk factor exceeds 1/270), further amniocentesis should be taken to confirm the diagnosis. Get the most accurate results.
对于目前尚无良好治疗方法的一些疾病，将采用产前筛查，这种方法是为了防止有缺陷的孩子的出生。检查怀孕16周至20周，并检查2-3毫升孕妇的外周血。如果发现高风险（高风险因子超过1/270），应采取进一步的羊膜穿刺术来确诊。获得最准确的结果。
27、 Genetic disease is not an incurable disease
遗传性疾病不是无法治愈的疾病
28、 In the past, genetic diseases were considered to be incurable. Now, as long as the research on the pathogenesis of genetic diseases is thorough, it is possible to find a suitable treatment method. At present, patients with genetic diseases with symptoms can achieve improvement or cure through diet, medicine, surgery and other therapies. Therefore, genetic diseases are not terrible, as long as they are cured by proper diagnosis.
过去，遗传性疾病被认为是无法治愈的。现在，只要对遗传性疾病的发病机理进行深入研究，就有可能找到合适的治疗方法。目前，患有症状的遗传性疾病患者可以通过饮食，药物，改善或治愈 手术和其他疗法。因此，遗传性疾病并不可怕，只要它们通过适当的诊断治愈即可。
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