Genetic Disorders Write For Us
A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence that differs from the typical sequence. Genetic diseases can be caused by a mutation in one gene, mutations in multiple genes, a combination of genetic mutations and environmental factors, or damage to chromosomes.
As we unlock the secrets of the human genome, we learn that almost all diseases have a genetic component. Some diseases are caused by mutations inherited from parents and present in the individual at birth, such as sickle cell disease. Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person’s lifetime. These mutations are not inherited from parents but occur randomly or due to some environmental exposure. These include many types of cancer as well as some forms of neurofibromatosis.
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Description Of Genetic Disorders
- Hereditary genetic disorders are passed down from generation to generation.
- Spontaneous genetic disorders are not passed from one generation to another. Still, they occur when the genetic material in the father’s sperm or mother’s eggs or cells of the developing embryo is damaged by chance or by drugs, chemicals, or other harmful substances (such as X-rays).
- Before becoming pregnant, women and their partners should consult their doctor about the risk of having a child with a genetic disorder.
- Risk factors include an elderly woman (“old”), family history of genetic abnormalities, spontaneous abortions, a previous child with congenital malformations, and chromosomal abnormalities in one of the future parents.
- Tests for genetic diseases can remain done in all couples, especially those at a higher than average risk of having babies.
Several Categories Of Genetic Disorders
Single-Gene Disorders:
Mutations in a single gene cause these and often follow a clear inheritance pattern. Samples contain cystic fibrosis, sickle cell anemia, and Huntington’s disease.
Chromosomal Disorders:
These disorders involve structural or numerical abnormalities in the chromosomes. Examples include Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).
Multifactorial Disorders:
A assortment of genetic factors and environmental factors influences these disorders. Examples include heart disease, diabetes, and some forms of cancer.
Mitochondrial Disorders:
These occur due to mutations in the DNA of the mitochondria, which are cellular structures responsible for producing energy. Due to their role in energy production, these disorders can affect various organs and systems.
Polygenic Disorders:
Multiple genes influence these disorders and often have complex inheritance patterns. They include conditions like asthma, obesity, and certain psychiatric disorders.
Genetic Syndromes:
These are a group of symptoms that consistently occur together and are often caused by a specific genetic mutation. Examples include Marfan syndrome and Prader-Willi syndrome.
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