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What type of mutation causes protein to be synthesized with one incorrect amino acid?
Missense
Are there albinos with Down syndrome?
No, albinism is a genetic mutation, not a generation-type of mutation, that also means a non-albino couple can have the chance of giving birth to an albino baby, it's a really random and rare mutation.
Type of mutation that causes Trisomy 18?
Very sure that it is insertion, because there are three chromosome 18s instead of two.
Is Stickler Syndrome a dominant gene or a recessive gene?
Most commonly is caused by a mutation in one of three types of collagen genes - COL2A1, COL11A1, COL11A2 and is a dominantly inherited disease. A recessive type has also beed described with a mutation in the COL9A1 gene.
What type of point mutation is dwarfism?
One type of dwarfism that is a point mutation is achondroplasia.
What is the type of mutation that causes Digeorge syndrome?
Deletion Mutation causes DiGeorges Syndrome.
What may cause Marfan syndrome?
Marfan syndrome is an autosomal dominant condition caused by a genetic mutation. The mutation occurs on chromosome 15 and affects the gene that encodes a protein called fibrillin-1. Over 100 mutations have been described, all of which impair the function of fibrillin-1. The precise reasons for the mutations are unknown. How the mutation manifests as the Marfan syndrome is also uncertain. There is mounting evidence that the fibrillin-1 defect allows for unabated activity of transforming growth factor-beta (TGF-beta), which causes the clinical manifestations of the syndrome (eg, hyperextensible joints, arachnodactyly, dislocation of the lens, aortic aneurysm). Because the condition is inherited in an autosomal dominant pattern, a parent with Marfan syndrome has a 50% chance of passing the defective gene on to his/her offspring. Some diseases are also associated with features that resemble Marfan syndrome. For example, multiple endocrine neoplasia (MEN) type III is associated with what's been called a marfanoid habitus -- patients commonly have the elongated axial bones and hyperextensible joints seen in true Marfan syndrome. MEN-III is caused by a mutation in the RET gene on chromosome 10. It is inherited in an autosomal dominant pattern.
What is the type of mutation that causes hemophilia?
There is no single type of mutation that causes Hemophilia A. It is not the type of mutation but rather the location of the mutation within the genetic code.
What type of mutation causes Edwards' syndrome?
An extra copy of Chromosome 18
Which process could result in the type of cell mutation that causes Down syndrome?
Down's syndrome is caused by trisomy of the 21st chromosome. This is mostly caused when the chromosome pair fails to separate properly (nondisjunction).
What is the type of mutation that causes crohn's disease?
A frameshift mutation in the CARD15 gene
What is the type of mutation that causes Adrenoleukodystrophy?
deletion
What is the type of mutation that causes this disorder?
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What chromosome is affected by Marfan syndrome?
Since the traits for hemophilia are carried on the X chromosome and not the Y, it is more probable for females to have a chromosome with the mutation. Since the mutation is considered recessive and males only have one X chromosome, they are more likely to portray the phenotype for hemophilia than their female counterparts.
What causes or type of mutation autism is?
Unknown at this time.
What type of mutation causes autism?
The mutation that causes Autism is a rare genetic mutation. There are three different genes that are linked to the cause of different disorders on the Autism Spectrum.
Is there a cure to marfan syndrome?
Met a family in a hospital waiting room with a family member with this disorder. I know very little:[ 1] Marfan syndrome is more commonly noted among a small subgroup of a certain type of exceptionally tall individuals.[2] It can "run in the family" so if it's in your family AND you are also exceptionally tall then you probably want to get yourself checked over by a special doctor that has had extra training about how to screen for Marfan syndrome as well as having had special training which focused on the latest research & additional knowledge about the specific way Marfan's syndrone affects people's body functions if they have it; [3] it is prudent to ask your own family doctor about Marfans syndrome first additionally then asking them about their own personal experience treating or diagnosing patients with this specific syndrome. (Some doctors may not be familiar with Marfans or only vaguely aware of what it is but unable to really provide specialized evaluation or treatment for it.) Best wishes.
