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If you are asking about the change in number of chromosomes, there are many that are non-fatal but many that are. Trisomy 21 has three chromosome #21 (Down's Syndrome) and the person can do OK but is usually developmentally delayed. Others like this are fatal.
The DNA sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health, depending on where they occur and whether they alter the function of essential proteins.
The types of mutations include:
Missense mutation
This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.
Nonsense mutation
A nonsense mutation is also a change in one DNA base pair. Instead of substituting one amino acid for another, however, the altered DNA sequence prematurely signals the cell to stop building a protein. This type of mutation results in a shortened protein that may function improperly or not at all.
Insertion
An insertion changes the number of DNA bases in a gene by adding a piece of DNA. As a result, the protein made by the gene may not function properly.
Deletion
A deletion changes the number of DNA bases by removing a piece of DNA. Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the resulting protein(s).
Duplication
A duplication consists of a piece of DNA that is abnormally copied one or more times. This type of mutation may alter the function of the resulting protein.
Frameshift mutation
This type of mutation occurs when the addition or loss of DNA bases changes a gene’s reading frame. A reading frame consists of groups of 3 bases that each code for one amino acid. A frameshift mutation shifts the grouping of these bases and changes the code for amino acids. The resulting protein is usually nonfunctional. Insertions, deletions, and duplications can all be frameshift mutations.
Repeat expansion
Nucleotide repeats are short DNA sequences that are repeated a number of times in a row. For example, a trinucleotide repeat is made up of 3-base-pair sequences, and a tetranucleotide repeat is made up of 4-base-pair sequences. A repeat expansion is a mutation that increases the number of times that the short DNA sequence is repeated. This type of mutation can cause the resulting protein to function improperly.
What else can I help you with?
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 are the causes of mutation?
Mutation is caused when chunks of chromosomes cut taken or fall off. So the chromosome with the DNA causes a mutation which sometimes is helpful but mosty hard to live with.
What is trisomy mutation?
A trisomy is when a person has 3 versions of a chromosome. 'Normal' humans will only have 2 of each chromosome. For example, having 3 versions of chromosome 21 is known as Trisomy 21 or Down Syndrome.
Mutation is any change in a gene or chromosome?
mutations
Is angel-man syndrome caused by a mutation?
Yes, Angelman syndrome is caused by a mutation in a gene called UBE3A. This gene is responsible for producing a protein that is vital for normal brain function. The mutation leads to the characteristic symptoms of Angelman syndrome.
Is Huntington's disease caused by a gene mutation or a chromosomal mutation?
Huntington's disease is caused by a gene mutation, specifically in the HTT gene on chromosome 4.
What is the term for any permanent change in a gene of chromosome?
A mutation is the term for any permanent change in a gene or chromosome. Mutations can be caused by various factors, such as errors during DNA replication or exposure to certain environmental factors like radiation or chemicals.
What mutation is caused by a piece of DNA breaking away from its chromosome and becoming attached to a non-homologous chromosome called?
Translocation
Is down's syndrome caused by a gene or chromosomal mutation?
Neither. It is an extra #21 chromosome.
What disease is called by a genetic mutation?
cystic fibrosis
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 an mutation?
An Inversion mutation is a mutation that causes a reversal in the order of a segment of a chromosome within the chromosome, or a gene.
What are the causes of mutation?
Mutation is caused when chunks of chromosomes cut taken or fall off. So the chromosome with the DNA causes a mutation which sometimes is helpful but mosty hard to live with.
What is trisomy mutation?
A trisomy is when a person has 3 versions of a chromosome. 'Normal' humans will only have 2 of each chromosome. For example, having 3 versions of chromosome 21 is known as Trisomy 21 or Down Syndrome.
Is klinefelter's syndrome caused by a mutation?
No it is caused by the Non-Disjunction of sex Chromosomes. Males with Klinefelter's syndrome have an extra X chromosome.
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 causes CMT1B?
caused by a mutation in a gene called myelin protein zero (MPZ) located on chromosome 1.
