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How can several different mutations cause the same genetic disease?
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What type of mutation cause glaucoma?
Glaucoma is associated with mutations in several different genes: MYOC, ASB10, WDR36, NTF4, TBK1, OPA1 and OPTN. But most cases of glaucoma do not involve any genetic mutations.
How is Zellweger syndrome caused?
Zellweger syndrome is caused by mutations in any one of several different genes involved in the function of the peroxisome
What is meant by the term genetic?
A Genetic disease is caused by an abnormality in an individual's genome. There are several types of genetic inheritance Single, Multi-factoral, Chromosome.
Are all DNA mutations detrimental?
Nope! Sometimes mutations are "silent mutations", this means that changing out the base does not change the amino acid made (as many amino acids are coded by about 3 different base combinations) Also, the mutation may only swap out an amino acid with a similar one, causing no change in the function of the protein it codes for. A lot of times, several AA's can be altered (even w/ very different AA's), and the protein structure/function can remain the same. Also.... DNA mutations that result in phenotypic mutations are sometimes a good thing: hence evolution... many small mutations causing an advantage over time. :) So mostly mutations that cause a base to swap out for another one are safe. Those that delete or insert a base change the reading frame and that's bad!
Why does huntington disease persist as a degenerative genetic disorder?
Several reasons. Until a few years ago, there WAS no genetic screening possible for HD- only when symptoms developed could the disease be diagnosed. Symptoms typically appeared between 30-40 years of age- AFTER people had already had children. As a result, a new generation of Huntington's patients would be born before the parents knew that THEY had HD.
Is maple syrup urine disease cause by a mutation?
Yes, there are several different mutations that can cause it.
What type of mutation cause glaucoma?
Glaucoma is associated with mutations in several different genes: MYOC, ASB10, WDR36, NTF4, TBK1, OPA1 and OPTN. But most cases of glaucoma do not involve any genetic mutations.
What is a cause of a genetic disease?
What is a genetic disease?A genetic disease is any disease that is caused by an abnormality in an individual's genome. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure. What are the different types of inheritance?There are a number of different types of genetic inheritance, including the following four modes: Single gene inheritanceSingle gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single age). Some examples of monogenetic disorders include:cystic fibrosis,sickle cell anemia,Marfan syndrome,Huntington's disease, andhemochromatosis.
Name two major types of mutations What do they have in common How are they different Give an example of each?
Gene and chromosomal; both change DNA sequence that affects genetic information. Gene mutations involve a change in one ore several nucleotides in a single gene, whereas chromosomal mutations involve changes in the number or structure of whole chromosomes
What is the genetic trace of 'CHARGE' syndrome?
Charge syndrome is genetic. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. This syndrome is a common cause of congenital anomalies affecting several tissues in nonrandom fashion. Some research has been shown that detected mutations are in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome that didn't have microdeletions, accounting for the disease in most affected individuals.
What is a spontaneous change that occurs in genetic material?
There are several. Some examples are: point mutations, crossovers, recombinations, translocations, deletions, errors in the repair process, telomere shortening, etc.
What causes hypolipoproteinemia?
Low blood fats can be the result of several diseases, or they can be a primary genetic disease with other associated abnormalities.
How can a person be screened for genetic disorder as huntington's disease?
Several diseases, including Huntington's, have a genetic screening test to identify the presence of the gene that causes Huntington's. Please visit the website for the Huntington's Disease Society of America for some good information.
What are the mechanisms of evolution?
There are several mechanisms for evolution. The first (and most important) being natural selection, which plays off random mutations. Genetic drift is also another important aspect of evolution. EDIT: It depends on what you mean by "mechanism." Mutations are thought to be the mechanism that causes the change in DNA, then natural selection and Gentic drift take over. Unfortunately, mutations do not hold up and evolution is ultimately left without a mechanism. This article on mutations gives an indepth explanation http://www.answersingenesis.org/articles/wow/are-mutations-the-engine STRAIT FROM THE BIOLOGY BOOK :)
How is Zellweger syndrome caused?
Zellweger syndrome is caused by mutations in any one of several different genes involved in the function of the peroxisome
What causes genetic mutations?
Mutations are changes in the nucleotide sequences in a genome. Most often, these minor mistaks are corrected by in-built repair mechanisms and many mutations go unnoticed an are not harmful. Harmful mutations cause diseases in many cases. There are several factors that promote the formation of mutations. These factors are called mutagenic agents. Mutagenic agents are divided into: chemical and physical mutagens. UV radiation is an example of a physical mutagen and Nitrous acid is an expample of a chemical mutagen
How is Wilson disease diagnosed?
The diagnosis of Wilson disease can be performed relatively easily through several different tests;
