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Is sickle cell disease autosomal or x-linked or chromosomal?
Sickle cell disease is an autosomal recessive disorder, meaning that it is caused by a mutation in one of the autosomal chromosomes (chromosomes that are not sex chromosomes). In the case of sickle cell disease, the mutation occurs in the gene encoding the beta-globin subunit of hemoglobin on chromosome 11.
Is marfan syndrome a chromosomal abnormality?
No, Marfan syndrome is not a chromosomal abnormality. It is a genetic disorder caused by a mutation in the fibrillin-1 (FBN1) gene, which affects the body's connective tissue. This gene is located on chromosome 15.
What is huntingtons disorder?
Huntington's disease is a genetic disorder that causes the progressive breakdown of nerve cells in the brain. It leads to various physical and mental symptoms, including involuntary movements, cognitive impairment, and psychiatric issues. There is currently no cure for Huntington's disease.
Which chromosomal mutation results in Alagille syndrome?
Alagille syndrome is typically caused by a deletion or mutation in the JAG1 gene located on chromosome 20. This gene provides instructions for making a protein involved in the development of various organs and tissues, including the liver, heart, and eyes.
Is marfan syndrome a genetic disease?
Yes, Marfan syndrome is a genetic disorder. It is not a disease. It is caused by a mutation in fibrillin and is an autosomal dominant mutation. This means that if you have a Marfan causing mutation, you have Marfan, and you have a 50/50 chance of passing it on to any children you may have. Severity of Marfan can vary within a family, even though all affected family members have the same mutation. It can not skip generations.
An inherited disease or disorder that is caused by a mutation in a gene or by a chromosomal defect?
There are many thousands of different mutations.
Genetic mutation caused by the loss of a chromosomal segment?
Deletion
Is the disease marfan syndrome a chromosomal ad normality?
Yes. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
What is the percentage of people that get huntingtons disease?
Around 1 in 10,000 people are estimated to develop Huntington's disease, a rare genetic disorder. It is caused by a mutation in the HTT gene on chromosome 4.
Is cystic fibrosis chromosomal abnormality?
Yes, it is caused by a mutation in the gene for the protein CFTR.
Is down's syndrome caused by a gene or chromosomal mutation?
Neither. It is an extra #21 chromosome.
Is cystic fibrosis caused by a gene mutation or chromosomal mutation?
Cystic fibrosis is primarily caused by mutations in the CFTR gene, which is located on chromosome 7. These mutations can result in a defective or non-functioning CFTR protein, leading to the characteristic symptoms of the disease.
What is caused by a dominant allele that expresses itself late in a persons life?
Huntingtons Disease
Is huntington's disease chromosomal error or a multifactorial trait?
Huntington's disease is primarily caused by a genetic mutation, specifically an expansion of CAG repeats in the HTT gene located on chromosome 4. This mutation leads to the production of a toxic protein that causes neurodegeneration. While there are some environmental factors that may influence the onset and progression of the disease, it is not considered a multifactorial trait in the same way that conditions like heart disease or diabetes are. Thus, Huntington's disease is fundamentally a chromosomal error rather than a multifactorial condition.
How many people in the US have huntingtons disease?
Huntington's disease affects approximately 30,000 people in the United States, with an additional 200,000 at risk of inheriting the condition. The disease is caused by a genetic mutation and typically manifests in adulthood. Its prevalence is about 5 to 10 cases per 100,000 people in the general population.
Is down syndrome and pku caused by chromosomal abnormalities?
Down syndrome is caused by an additional chromosome while PKU is due to a mutation or defect in a gene.
What causes huningtons disease?
Huntingtons disease is a genetic/inherited diesease. It is caused by a faulty allele (a dominant one), which can be inherited by parents. Spontanoius mutations may also occur which would cause the faulty gene and therefore huntingtons disorder.
