Inherited from mom, dad or grandparents can be not only flat, talent or hair color. A predisposition to varicose veins or allergies too – and it’s not good. Is it possible to know what is the disease passed the person his parents and what we gain from this knowledge, explained geneticist Maria Litvinova, an employee of the Independent laboratory INVITRO.
Sometimes it is all about quittingwhat physicians call hereditary information is generated at the moment of conception. And everything that got in, and have to live with. Diseases transmitted by inheritance, not dozens, not even hundreds – about five thousand. They are divided into two types: monogenic and multifactorial.Monogenic diseases, as the name implies, are caused by one of the pathological gene. If you take the population of Russia as a whole, are most often found four such diseases: cystic fibrosis (affects the respiratory and digestive systems), phenylketonuria (a metabolic disturbance affecting the child’s development), spinal atrophy (affects the muscles of the trunk and limbs) and non-syndromic hearing loss (hereditary deafness). According to statistics every 15th inhabitant of Russia is some kind of four pathological genes that cause these diseases. people may not know about it, but if someday he decides to reproduce with the same carrier, with a probability of 25 percent of the disease in the child. The inheritance and manifestation of a multifactorial disease related to the action of many genes interacting among themselves and, most important, with the environment. These include coronary heart disease, myocardial infarction, hypertension, thrombosis, allergies, atherosclerosis, diabetes. In this case we speak not about the transmission of the disease to be inherited, but genetic predisposition – it is manifest or not depends on how and in what conditions people will live. The development of the disease it is really prevented by prophylaxis: for example, rejection of fatty foods and control the level of cholesterol, if there is a risk of atherosclerosis; special diets, weight control and blood sugar – in the case of predisposition to diabetes. In our organism there are genes that control detoxification processes, i.e., cell recovery after the attack of toxins. If they have certain changes, people may be predisposed to certain cancers – lung, bladder, rectum. The doctors, upon discovering this, advised to beware of anything that contains procancerogenic – deep fried meat, contact with lacquers, paints and all substances which contain aromatic amines, as well as Smoking (including passive).
For infertility is to test genes Who recommended genetics? In principle, make it possible for everyone to find out what hereditary diseases predisposed – and try to build a life so that they never manifested. But there are a few categories of people who are strongly recommended to undergo genetic diagnosis. This couples suffering from infertility; women who faced miscarriage, non-viable pregnancy, stillbirths, parents of sick children wishing to confirm or exclude a hereditary pathology; women planning children after 35 years. What need to tell? The sick coming direct relatives (parents, grandparents, siblings), whether in the family sick children, how are things with the reproductive function, whether people adverse effects (eg radiation) – this information is for genetics is very important. What can I check? Infertility, for example, is assigned to karyotyping, that is, the evaluation of a set of chromosomes whether they are formed that there are no defects, mutations, which can cause the tab defective fetus. If there are changes, it is the risk of having a child with e.g. down syndrome. It is possible to investigate the genes that influence the tone of vascular cells: changes in them increase the risk of vascular complications during pregnancy – thrombosis, toxemia of pregnancy. Genes of folate cycle influence on the correct tab of the tissues of the embryo; if they have changes that risk of having a child with isolated malformation (cleft lip, cleft palate). This is not a complete list. What if the mutations in the genes find? If it turns out that the mother or father (or both) are carriers of pathological genes and this can lead to the birth of the sick child, prenatal spouses are invited, that is prenatal diagnosis – examining the fetus, it is possible in the early stages to identify his developmental pathology and the presence of genetic abnormalities.
Physician-geneticist Maria Litvinova:
After 35 years, the risks are greatly increased– There is a certain threshold for women 35 years of age, when significantly increases the risk of conceiving a child with chromosomal abnormality (usually down syndrome). it is wrong to argue in principle “in our family has never been down, and I will not.” The risk exists for all women! The fact that there is a possibility of nearshore of chromosomes when forming gametes. This is a very important point, and the probability that two 21st chromosomes do not disperse with respect to each other on the two sexual cells, increases with age. When this chromosome set, the couple may be perfectly normal. If we consider the risk of having a child with a hereditary pathology of the average pair – regardless of age, it is equal to approximately 5 percent. As soon as crossed the threshold at age 35, the risk increases by 0.5 percent, after a 40 – 1.5. From the point of view of genetics it is a very serious increase.