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CMT is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of CMT disease, all of the mutations affect the normal function of the peripheral nerves. The gene mutations in CMT disease are usually inherited.
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If a boy inherits a disease that is autosomal recessive he inherited it from his mother?
If a boy inherits an autosomal recessive disease, he would have inherited one copy of the mutated gene from each of his parents. The mother is a carrier, meaning she has one copy of the mutated gene but does not show symptoms of the disease. When both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit two copies of the mutated gene and have the disease.
What chromosome is polycystic kidney disease found?
It is a mutated gene called PKD1 located on chromosome 16.
What is a changed gene?
mutated
What most mutated genes are which cause human disorders?
A mutated gene is just a gene that doesn't have the correct DNA or alleles.. Depending of the human disorder the gene that is mutated will be different... We use genes throughout our bodies but ALL genes can cause human disorders but there is NO single gene that, when mutated, creates ALL genetic modification...
Is huntington disease a autosomal dominant disorder?
Yes, Huntington's disease is an autosomal dominant disorder caused by a mutation in the HTT gene on chromosome 4. An affected individual has a 50% chance of passing on the mutated gene to each of their children.
Is canavan disease sex-linked?
Canavan disease is not a sex-linked genetic disorder. It is an autosomal recessive disorder, meaning that both parents must pass on a copy of the mutated gene in order for an individual to inherit the disease.
Is Canavan disease inherited?
Yes, Canavan disease is an inherited genetic disorder caused by mutations in the ASPA gene. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.
Does FAP follow a recessive or dominant inheritance pattern and why?
FAP (familial adenomatous polyposis) follows an autosomal dominant inheritance pattern. This means that individuals with an affected parent have a 50% chance of inheriting the mutated gene that predisposes them to develop multiple adenomatous polyps in the colon. The presence of just one copy of the mutated gene is enough to cause the disorder.
How can mutation in gene lead to a new trait in an organism?
The mutated gene codes for a protein that cause a new trait
What is muteins?
protein that is a product of expression of a gene that was mutated.
Is hunters disease dominant or recessive?
Hunter's disease is inherited in an X-linked recessive pattern. This means the mutated gene that causes the disease is located on the X chromosome, and males are more commonly affected because they only have one X chromosome. Females can carry the mutated gene but are typically unaffected due to having a second X chromosome that can compensate.
Is sickle cell anemia an autoimmune disease?
Sickle Cell Anemia is Autosomal Recessive. It arises from a mutation on the beta-globin gene of chromosome 11. Because Sickle Cell Anemia is an example of incomplete dominance, a person has the disease if they have two mutated beta-globin genes but only has the trait (is a carrier) if they have only one mutated beta-globin gene.
