The role of genetic literacy in the prophylaxis of hereditary diseases

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THE ROLE OF GENETIC LITERACY IN THE PROPHYLAXIS OF HEREDITARY DISEASES

Khalitova R.A. (Republic of Uzbekistan)

Khalitova Roza Alimovna - Teacher,

DEPARTMENT BIOLOGY AND ITS TEACHING METHOD, TASHKENT STATE PEDAGOGICAL UNIVERSITY NAMED AFTER NIZAMI, TASHKENT, REPUBLIC OF UZBEKISTAN

Abstract

This article is devoted to the problem of the prophylaxis of hereditary diseases and the role of teachers in solving this problem.

One of the causes of hereditary diseases is closely related marriages. This problem is also relevant for our region; this is due to various social causes and the influence of traditions.

At present, it is not possible to correct the change by traditional methods in hereditary material, which is the cause of a hereditary disease. Therefore, the main means of reducing the intensity of the genetic load in human populations is prophylaxis. Thus, the rejection of kinship marriages can, it is considered as one of the methods of prophylaxis of hereditary diseases.

Since one of the causes of closely related relationships is not the awareness of the population, ignorance of the consequences of such marriages. Raising the level of genetic literacy of today's youth will not only improve the situation with respect to hereditary diseases, but will also help to preserve the health of people.

The custom is not so easy to eradicate - it will take more than ten years to change the mentality of people and their attitude towards such marriages - but educational work must be carried out tirelessly. Genetic education “for all” should correspond to the level of modern science, be fascinating and aim at explaining actual problems.

Keywords: genetic literacy, closely related marriages.

Аннотация

РОЛЬ ГЕНЕТИЧЕСКОЙ ГРАМОТНОСТИ В ПРОФИЛАКТИКЕ НАСЛЕДСТВЕННЫХ ЗАБОЛЕВАНИЙ

Халитова Р.А. (Республика Узбекистан)

Халитова Роза Алимовна - преподаватель, кафедра биологии и методики ее преподавания,

Ташкентский государственный педагогический университет им. Низами, г. Ташкент, Республика Узбекистан

Данная статья посвящена проблеме профилактики наследственных заболеваний и роли преподавателей в решении данной проблемы.

Одной из причин появления наследственных заболеваний являются близкородственные браки. Данная проблема актуальна и для нашего региона, это обусловлено различными социальными причинами и влиянием традиций.

В настоящее время невозможно традиционными способами исправить изменение наследственного материала, являющегося причиной наследственного заболевания. Поэтому основным средством снижения интенсивности генетического груза в человеческих популяциях является профилактика. Таким образом, отказ от родственных браков может рассматриваться как один из методов профилактики наследственных болезней.

Так как одной из причин близкородственных связей является неинформированность населения, незнание последствий подобных браков, повышение уровня генетической грамотности современной молодежи позволит не только улучшить ситуацию в отношении наследственных болезней, но и будет способствовать сохранению здоровья людей.

Обычай не так просто искоренить -- потребуется не один десяток лет, чтобы изменился менталитет людей и их отношение к таким бракам -- но просветительская работа должна вестись неустанно.

Генетическое образование «для всех» должно соответствовать уровню современной науки, быть увлекательным и нацеленным на разъяснение актуальных проблем. Ключевые слова: генетическая грамотность, близкородственные браки.

In today's world, everyone needs to get an idea of some basic concepts of genetics, including predictive medicine, gene therapy, and genetic engineering.

Genetic knowledge has a direct life meaning, it allows to partially solve the problem of prophylaxis of preventing the hereditary diseases.

Despite the fact, at present time there are great achievements in the field of medicine, there are a number of incurable diseases, these are primarily diseases of hereditary nature, since the cause of hereditary diseases are chromosomal and genomic changes [3].

It has long been observed that closely related marriages lead to the appearance of children with hereditary diseases.

Unfortunately, this problem is also relevant for the countries of Central Asia. Marriages between relatives in our region are a very common phenomenon, due to various social causes and the influence of traditions. The medical aspects of closely related marriages are studied quite well and indicate a high probability of adverse effects for children, born in such marriages.

In every cell of human there is a set of genes that carries the necessary information about all life structures and phenomena occurring in our body.

The gene serves as a "methodic", gives instructions - how synthesizes the desired structure. Genes are represented by two alleles - one comes from the mother, the other from the father. Since a human has 2 alleles of each gene, a potentially dangerous mutation in one of the alleles is usually not the cause of poor health - the cell has a second, “normal” allele. But, if a person has a defect in both alleles of the same gene, then the cell is not able to get information about any one vital structure, this is manifested by a genetic disease [2].

Relatives have “similar” genes, and, of course, similar mutations. Children of relatives are more likely to get the same defect.

Relatives may have different levels of relationship, respectively, and different risk of the birth of a sick child. Genetics classify closely related marriages in the followings:

• siblings, fraternal twins, parents and children are considered first-order relatives. Marriage between such relatives is called incest. The risk of having a sick child in such relatives is about 60%;

• Uncle, aunt, nephew, niece, grandfather, grandmother, and half-brother or sister are considered second-order relatives. The risk of having a sick child in such relatives is about 25%;

• A cousin (boy), cousin (girl), step-uncle, step-nephew are third-order relatives. The risk of having a sick child in such a marriage is about 4-6% (in the condition: there is no history of hereditary genetic diseases in the family).

Unrelated parents have a 2-3% risk of having a genetically unhealthy child.

Sibling marriages lead to degradation, literate people understand this well, but are unable to break the tradition [2].

The first reason for related marriages is the strengthening of intra family relations, when one or another branch of relatives begins to move away in order to once again become closer to each other and marry suitable young people from both sides.

The second reason is the reluctance to give the daughter to strangers and in the same way to take into his or her family a “other” daughter-in-law.

The third reason is the so-called “exchange”, when two families “exchange” daughters and sons.

The fourth reason for frequent marriages between cousins-sisters and uncles-aunts- nephews is the ever-growing amount of kalym - price for bride, when they go to see their relatives, with the certainty that “they will not ask their own lot”.

A person can live normally with a fairly large number of harmful alleles that are in the genome in the amount of only one copy, and therefore not manifested. Another thing, if the body receives a mutant version of the gene from both parents - such a mutation will necessarily occur. But the probability of meeting two carriers of a rare mutation is very small - they are unlikely to get to know each other and get married, because the choice of partners in modern society is becoming ever wider.

But if relatives marry, the probability for a mutation it is occurred in the progeny in a homozygote and it is directly proportional to the degree of kinship of the bride and groom.

Medical care for people with hereditary diseases in poly clinical conditions is provided 5-6 times more often. Most hereditary diseases have a chronic course. Whole organ systems and metabolism are spoiled. More often there are injuries, infectious diseases, due to the lower possibilities of maintaining biochemical, immunological and hormonal homeostasis in patients with hereditary pathology.

Along with the medical and social significance of the prevention of hereditary diseases there is a small important of psychological aspects in the family in the presence of a sick child. The severity of the disease creates an atmosphere of psychological tension, even in very close-knit families. Spouses or relatives “find out”, who is guilty for the birth of a sick child. Constant care for a child requires large material, moral and physical costs, one way or another causing conflict.

This suggests that the diagnosis, treatment and prevention of hereditary diseases is one of the most urgent tasks of medical genetics and humanity as a whole.

At present, it is not possible to correct change by traditional ways of hereditary material, which is the cause of a hereditary disease. Therefore, the main means of reducing the intensity of the genetic load in human populations is prophylaxis.

Thus, the rejection of kinship marriages can, is considered as one of the methods of prophylaxis of hereditary diseases.

An important element of prophylaxis is medical genetic consultancy.

In the planning period for pregnancy it needs to get a genetic consultancy.

It is better for a woman to come genetics consultation in the planning period of pregnancy; it is necessary in three months before conceiving and always together with a partner.

Consultation of genetics aims to identify and warn future parents about the possibility of having a child with pathology before and during pregnancy. The specialist will conduct a genealogical analysis, chromosomal examination, blood tests and will report, in percentage, the probability of having a baby with pathology.

Consultation genetics will provide an opportunity to learn about the risk of having a child with congenital abnormalities, but the geneticist cannot prohibit anything. Only parents decide on the birth of a child.

Consultation of genetics is necessary for all women who are planning a pregnancy, but it is especially important to get it in the following cases:

• if the partners are closely related;

• if both partners are carriers of genetic diseases;

• if a partner has a congenital defect;

• if partners have inherited diseases in the family;

• if the woman is over 35 years old.

The best time to consult with a geneticist is before conceiving, and if we are talking about closely related marriages, then - until marriage [1].

Doctors say that we need active propaganda work, because the majority of the population, including the young, are in the dark about the seriousness of the consequences of marriages between relatives.

In this case, teachers of biology can play a significant role in preventing the emergence of a generation with hereditary diseases, since section of genetics has a corresponding theme.

For example, when teaching topics such as “Inherited Human Diseases”, special attention should be paid. This topic addresses such issues as: “Human Chromosomal Diseases”, “Genetics and Human Health”, “Medical Genetic Counseling”. It is necessary to convey to students the value, methods of medical and genetic counseling. So it is necessary to present information in an accessible form. medicine genetic hereditary pathology

The task of the teacher consists not only in the transfer of information, but also the correct orientation in this information, the inculcation of such abilities and skills, such personal qualities that would allow one to independently solve the most diverse life tasks. In modern conditions, it is demanded to make decisions by ability, to work effectively with a variety of information, to predict reasonably to become key links by professional and life competence of human [4].

Genetic education acquires socio-economic importance, becoming a factor in the security of the biosphere and society. Illiterate and hasty decisions are often fraught with long-term adverse effects.

Today, scientists, educators, public figures need to worry about the issue of mass genetic illiteracy of the population, and it is demanded to improve the level of genetic education.

Since one of the causes of closely related marriages is the lack of awareness of the population, ignorance of the consequences of such marriages.

It follows that increasing the level of genetic literacy of today's young people will not only improve the situation of hereditary diseases, but will also help preserve the health of people.

And although scientists believe that this custom is not so easy to eradicate - it will take more than ten years to change the mentality of people and their attitude towards such marriages - educational work must be carried out tirelessly.

Genetic education “for all” should correspond to the level of modern science, be fascinating and aim at explaining actual problems.

In my opinion, the formation of genetic literacy - is the foundation of a healthy lifestyle, preservation of mental, physical and moral health of human.

References in English / Список литературы на английском языке

1. Sharipova M.K The role of the medical-genetic service in the prophylaxis of congenital and hereditary pathology in Uzbekistan. Abstract of the thesis of medical sciences. Tashkent, 2004. P. 26-27 [in Russian].

2. Baranov V.S. The program “Human Genome” as a scientific basis for prophylaxis medicine // Messenger. RAMS, 2000. № 10. P. 27-37 [in Russian].

3. Fayzullaev S.S. Methodical foundations of the formation of genetic concepts in students. SAP. Tashkent, 2005. Р. 51-53 [in Russian].

4. Ulyakhin V.N. Some problems of social and economic modernization in the CIS countries and Asia: a comparative analysis // East., 1993. № 5. P. 96-97 [in Russian].

References / Список литературы

1. Шарипова М.К. Роль медико-генетической службы в профилактике врожденной и наследственной патологии в Узбекистане. Автореф. дисс. мед. наук. Ташкент, 2004. С. 26-27.

2. Баранов В.С. Программа «Геном человека» как научная основа профилактической медицины // Вестн. РАМН, 2000. № 10. С. 27-37.

3. Файзуллаев С.С. Методические основы формирования генетических понятий у учащихся. ФАН. Ташкент, 2005. С. 51-53.

4. Уляхин В.Н. Некоторые проблемы социальной и хозяйственной модернизации в странах СНГ и Азии: сравнительный анализ // Восток, 1993. № 5. С. 96-97.

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