Types of Genetic Diseases to Learn About
Genetic diseases are pathological conditions caused by a modification of the genome that causes the synthesis of defective albumins.
This type of ailments can be hereditary or not, depending on whether the altered gene is present in the germ cells (ovules and spermatozoa) or in the somatic cells, in this case, it will not be hereditary.
The way in which the disease is inherited can help to establish the risks that will be present during pregnancy and the risk that it will show again in subsequent children.
Types of genetic diseases:
Monogenetic Flaws: That affects only one gene, this disorder tends to have a higher risk of being inherited as for example:
Achondroplasia: Is the condition that affects poor bone growth and dwarfism.
Marfan Syndrome: Connective tissue disorder that causes long limbs and heart defects.
Cystic Fibrosis: Atrophy of glands that produce mucus in the lungs, poor functioning of the pancreas and problems in the absorption of medications.
Chromosomal Disturbances: Where the chromosomes (or part of chromosomes) are missing or change, such as:
Down Syndrome: The cells contain 3 chromosomes on the number 21.
Turner Syndrome: One of the sex-determining chromosomes is not transferred to the genome, leaving only one X chromosome, or a total of 45 chromosomes.
Deletion: It is the absence of a chromosome.
Multifactorial: Where there are mutations in two or more genes, in this type, the lifestyle we lead and the environment can intervene. It is almost impossible to predict the inheritance of anomalies caused by multiple factors. Some examples are heart defects, cleft lip, cleft palate, and neural tube defects.
Teratogenic: It is the scientific branch that studies the abnormal creatures, what does it mean? which studies those natural individuals in a species that do not respond to the common pattern that is altered when a substance affects the fetus, such as medications, alcohol, exposure to high levels of radiation, etc.
How to diagnose genetic diseases:
Screening Or Neonatal Screening: It is done from obtaining a small sample of blood from the newborn and this sample is taken to a laboratory and analyzed to rule out a series of genetic diseases.
Prenatal Diagnostic Tests: To perform the test, a sample of tissue can be obtained through amniocentesis or chorionic villus, used to detect changes in the genes or chromosomes of a fetus.
Predictive Or Predisposition Tests: they serve to identify people at risk of a disease before the onset of symptoms, such as mutations that increase the risk that a person develops a disease of genetic origin, as is the case of some types Of cancer.
It is necessary to control the DNA of each parent to know some genetic inheritance patterns that they did not know they had, as well as having a history of diseases of their parents and know what they can find later.