Genetic Diseases And Tests Help Detect Genetic Diseases

What is a gene?
Genes are the structures that regulate your outer form. Each gene exists in pairs. The fetal genome consists of half from the mother and the other half from the father. Some traits, like blood type, are specified by a single pair of genes while others like skin color, hair color, height, are the result of the activity of many pairs of genes.
What is a chromosome?
Chromosomes (chromosomes) are structures that contain genes located inside cells. Each man's sperm and every woman's egg are composed of 23 chromosomes, the other cells in the body include 46 chromosomes. When an egg is fertilized with a sperm, the 23 chromosomes from the mother's egg combine with 23 chromosomes from the father's sperm to make a zygote of 46 chromosomes, thus developing the fetus.
What is sex chromosome?
Sex chromosomes are the type of chromosomes that determine the sex of a person

There are two types of sex chromosomes: X and Y.


Genetic Diseases And Tests Help Detect Genetic Diseases

Each person will have 1 pair of sex chromosomes, of which 1 sex chromosome receives from his father's sperm (sperm carrying X or Y chromosomes), and 1 sex chromosome receives from Eggs of the mother (eggs always carry X chromosome). Therefore, the sex of the fetus will be determined by the sex chromosome received from the father: if sperm carrying the Y chromosome combines the X chromosome X will produce pair of sex chromosomes XY, determining the male sex of the fetus, and vice versa, if it is XX will determine the sex of the fetus.
The formation of fetal sex
What is genetic disease?
Genetic diseases are those that occur because of genetic or chromosomal abnormalities. An inherited disease is a disease caused by a genetic abnormality passed on to their children. These diseases can be autosomal dominant, recessive, or sexually linked chromosome X. A chromosome is caused by chromosomal loss, chromosomal anomalies, or extra chromosomes.
What is the dominant genetic disease?
An inherited genetic disease is an inherited disease caused by an abnormality in only one gene, which can be inherited from either father or mother
If one parent carries this abnormal gene, each of their children will have a half chance of having this genetic disease.


Genetic Diseases And Tests Help Detect Genetic Diseases


What is recessive genetic disease?
Recessive genetic disease is an inherited disease caused by abnormalities in both genes. Both parents must be carriers of the abnormal gene to cause the disease to occur in their child. If both parents are carriers of the abnormal gene for the same recessive genetic disease, each of their children will have one quarter of the chance of developing the recessive genetic disease.
If you have a recessive gene for a certain genetic disease, you are called a gene carrier for that disease. Although you do not have symptoms, it is still possible to transfer this abnormal recessive gene to your child.
What is genetically linked chromosome X sex?
Diseases caused by genetic abnormalities on the X sex chromosome are called X chromosomal-linked hereditary diseases. In most X chromosome-linked genetic diseases, the abnormal gene is the recessive gene.
If a child has a male gender, he will carry the XY sex chromosome, in which the X chromosome is inherited from the mother.


Genetic Diseases And Tests Help Detect Genetic Diseases

If this X chromosome carries the abnormal gene that causes recessive genetic disease, then the child will get sick because he or she doesn't have another X chromosome carrying the normal gene to eliminate the pathogenic role of this abnormal gene. The disease is a common example of an inherited disease called the X sex chromosome.
What is chromosome genetic disease?
Genetic diseases are inherited diseases caused by chromosome loss, chromosomal abnormalities, or extra chromosomes. These diseases are often caused by errors that occur during egg or sperm production. Most children with an inherited chromosome have a physical disability, and some have mental retardation.
The risk of having a child with an inherited chromosome disease increases with maternal age. For example, a 35-year-old woman will have a 1/192 risk (less than 1%) having a baby with hereditary chromosomal disease, and this risk will increase to 1/66 (about 1.5%) in women give birth at age 40.


Genetic Diseases And Tests Help Detect Genetic Diseases


What is a multi-factor genetic disease?
Genetic diseases caused by a combination of factors are called multifactorial genetic diseases. A small number of multifactorial genetic diseases can be detected during pregnancy.
What is a carrier test?
Gene carrier test is a test that helps detect whether a person is carrying an abnormal gene for a certain genetic disease. Testing for a carrier of a gene can be done before, during, or after pregnancy.
To carry out the gene carrier test, a blood or saliva sample will be taken to conduct laboratory tests to detect abnormal genes that cause a certain genetic disease.
All women may be offered or given information about the carrier test for (). Other tests may be recommended if your family history, race background, and other factors increase your risk of being a carrier. There is no gene carrier test for most birth defects.


Genetic Diseases And Tests Help Detect Genetic Diseases


If you are the carrier of an abnormal gene, your health care provider or genetic counselor will help you understand the risk that the abnormality may be passed on to your child. If the test was done before you became pregnant, you can use those results to.

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