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EDUCATE. Find out how diseases are spread genetically between people and the chances of you sharing a genetic disease with your family.
A genetic disorder is a disease that is caused by a change, or mutation, in an individual’s DNA sequence. The condition is an illness caused by changes in a person’s DNA.
A mutation causes dominant genetic diseases in one copy of a gene. If a parent has a dominant genetic disease, then each of that person’s children has a 50% chance of genetic illness transfer of the disease.
The current genetics definition refers to the study and manipulation of heredity and variation in living organisms. Genetics is pervasive in twenty-first-century science including reproductive screening technologies like preimplantation genetic screening.
Certain genetic conditions may affect fertility or may be treated through a variety of in vitro fertilization (IVF) Mexico. In general, these genetic abnormalities fall into two categories: Single gene defects and chromosomal abnormalities.
How is Genetic Disease Transferred?
Genetic illness transfer can happen in several distinct patterns. The most common patterns are the following:
- A mutation causes dominant genetic diseases in one copy of a gene. Examples of dominant genetic diseases include Achondroplasia and Huntington disease. For some dominant genetic disorders, there may be specific DNA tests accessible.
- Recessive genetic diseases. When both parents are carriers of the same recessive disease, there is a 25% chance that the pregnancy will inherit the trait from both parents and have the disease, a 50% chance that the pregnancy will inherit the trait from only one parent and be a carrier, or a 25% chance that the pregnancy will not inherit the trait from either parent and will not be a carrier or have the disease.
- Sex-linked genetic diseases affect males and females differently. This is a smaller set of diseases related to gene mutations on the X or Y chromosomes. Some common examples include hemophilia and color-blindness.
- Chromosome abnormalities can occur in any pregnancy. Sometimes these risks are related to the parent’s age and involve extra or missing chromosomes. The second type of chromosome abnormality is a change in the structure or organization of the chromosomes. They can be passed from parent to child in many intricate patterns and can be the cause of multiple unexplained miscarriages, congenital disabilities, or apparent infertility.
The Role of Genetic Testing
A genetic test looks for changes, sometimes called mutations or variants, in the DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. For example, genetic testing can provide a diagnosis for a genetic condition such as Fragile X or information about a person’s risk of developing cancer.
Here is an array of genetics examples to explore.
- Genetic recombination or DNA recombination involves the exchange of genetic material either between multiple chromosomes or between different regions of the same chromosome.
- Genetic variation is the distinction of DNA sequences between individuals within a population.
- Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genetic linkage maps can be used to identify the location of genes responsible for traits and diseases.
For example, genetics of eye color is influenced by more than one gene. There is evidence that as many as 16 different genes could be responsible for eye color in humans; however, the primary two genes linked with eye color variation are OCA2 and HERC2, and both are localized in Chromosome 15.
A genetics counselor can help make sure that you are the right person in your family to get a genetic test, you’re getting the proper genetic analysis, and that you understand your results, including:
- Learning whether you have a genetic condition that runs in your family before you experience symptoms
- Learning about the chance a current or future pregnancy will have a genetic condition
- To diagnose a genetic condition if you or your child has symptoms
- To understand and guide your cancer prevention or treatment plan
Genetic Diseases and Disorders
Genetic diseases are any disease caused by an abnormality in the genetic makeup of an individual. The genetic defect can range from minuscule to major; from a discrete mutation in a single base in the DNA of a single gene to a chromosomal abnormality involving the entire chromosome or set of chromosomes.
Some people inherit genetic disorders from the parents, while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases.
Different diseases can be genetically transferred from one person to the next. They include:
Cancer is a genetic disease. It causes specific changes to genes that control the way our cells function, especially how they grow and divide.
Breast cancer is an example of a genetically transferred illness. About 5 to 10% of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child.
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations.
Certain known genetic disorders are associated with an increased risk for autism, including Fragile X syndrome, tuberous sclerosis — each of which results from a mutation in a single, but different, gene.
Recessive Genetic Disease
If both partners are carriers, they have a 25% risk of having an affected child with a recessive genetic disease and a 50% that the child will be a carrier like the parents.
In an autosomal disorder:
- There is a 25% chance that the child will be born with an autosomal recessive disorder. The child will have inherited two changed mutated genes, one from each parent
- There is a 50% chance that the child will be a carrier like the parents, but will not have any symptoms. The child will have inherited one normal gene and one mutated gene
- There is a 50% chance that the child will not inherit the defected gene with a change (mutation) from either parent. This child will not be a carrier and will not be affected by the disorder.
In an X-linked recessive disorder, if the mother is a carrier, there is a 25% chance that she will have an affected male child in each pregnancy.
- There is a 50% chance that the child is a male or female who is healthy with a normal copy of a particular gene
- There is a 25% chance that it is a healthy carrier female child or a mildly affected female child
- There is a 25% chance that it is an affected male with only one mutated copy of the gene
The LIV Lifeline
Our LIV Fertility Center comprises of board-certified reproductive endocrinology and infertility specialists who are committed to educating patients on several fertility problems, including genetics and illness.
At the LIV Fertility Center, intended parents with a history of inherited cancers can rely on our state-of-the-art genetic testing via preimplantation genetic screening (PGS) to eliminate genetic diseases from children for generations to come.
Carrier screening can help partners make informed decisions and choices regarding family planning that are consistent with their values. It can allow couples to:
- Plan their pregnancy via PGS
- Pursue alternate options such as using a sperm or egg donor
- Have prenatal diagnosis during pregnancy
Many different health issues can affect a couple’s ability to get pregnant. Our mission in Puerto Vallarta is to provide sophisticated care for the most extensive variety of medical conditions that are associated with infertility.
Contact LIV Fertility
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