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What does duplication mutation mean?
Deletions and duplications of single-base pairs typically arise during homologous recombination and cause diseases. But what happens when a mutation occurs over multiple genes? Rearrangements of chromosomes include deletions of DNA sequences and duplications of segments, both of which can encompass thousands to hundreds of thousands of bases. Why do these large rearrangements occur? For one, certain structural features of the genome, also referred to as genome architecture, can render various regions fragile and thus prone to events such as chromosome breakage, which often result in translocations, deletions, and duplications. Often, these alterations happen due to errors during cell division when chromosomes align (Figure 1). Homologous recombination between areas of concentrated repeated sequences frequently creates deletions and duplications. Because they commonly involve more than one gene, the disorders caused by these large deletion and duplication mutations are often severe.
What is the original source of all the different alleles of a genes?
A mutation in a pre-existing gene. If the mutation effects the phenotype derived from the gene, it is determined to be a different allele. Mutations can be small (such as a single nucleotide polymorphism) or large (such as entire genome duplication).
What is the difference between gene and chromosomal mutation?
A gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations range in size from a single DNA building block (DNA base) to a large segment of a chromosome. A chromosomal mutation is a mutation involving a long segment of DNA, it is a any change in the structure or arrangement of the chromosomes. These mutations can involve deletions, insertions, or inversions of sections of DNA. In some cases, deleted sections may attach to other chromosomes, disrupting both the chromosomes that loses the DNA and the one that gains it.It is also referred to as a chromosomal rearrangement The differences between Gene mutation and Chromosome mutation are ; 1- Chromosome mutations involve changes in the structure of a chromosome OR the loss or gain of a chromosome while Gene mutations involve a change in the nucleotide -base sequence of a gene on a DNA molecule. 2- Chromosomal mutations are changes in the structure or the numbers of chromosomes (a gain or loss). Gene mutations involve changes in the nucleotide sequence of the DNA molecule. 3-A gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations range in size from a single DNA building block (DNA base) to a large segment of a chromosome while a chromosomal mutation is a mutation involving a long segment of DNA, it is a any change in the structure or arrangement of the chromosomes. These mutations can involve deletions, insertions, or inversions of sections of DNA. In some cases, deleted sections may attach to other chromosomes, disrupting both the chromosomes that loses the DNA and the one that gains it.It is also referred to as a chromosomal rearrangement 4-gene mutation is just a substitute in any old random nucleotide for any old random nucleotide chromosome mutation is missing of chromosome or +1 chromosome (down's syndrome).
Diseases caused by germ cell mutation?
most mutations are silent (and therefore have no effect). of the mutations that have an effect, you can have deletions, additions, point mutations and frameshifts. deletion is when a large section of the DNA is deleted, for example a whole gene, or a large proportion of it. addition is when a large section of DNA is added (this is most common in bacteria, undergoing horrizontal gene transfer, but is also how plants probably got the genes required for photosynthesis for example). point mutations is when one DNA base is changed. these are mostly due to mistakes in DNA replication, are often silent, but can change single aminoacids, and is probably the greatest source of variation within a single species (or population). frameshifts are also caused by ineffective DNA replication, but rather than a base changing, an extra on is added or one is missed out. this changes the way inwhich the cellular machinary reads the DNA, so if it occours within a gene it often means that the gene is now ineffective at the job it was supposed to do before. ben
Which type of mutation would have a greater effect on the sequence of amino acids in a protein a base-pair substitution or a frame shift mutation?
Point mutations are normally single base substitutions in a DNA strand. For example:Imagine this is a DNA strand split up into 3 bases.Instead of: The fat cat ate the wee rat and hatYou will get: The fat bat ate the wee rat and hatThere is not much of a change. It may result in a different amino acid being placed there when it is translated.Frameshift mutations on the other hand are much more devastating.Instead of: The fat cat ate the wee rat and hatYou will get: The fat bca tat eth ewe era tan dha tYou can see that the addition (or even deletion) of one base changes EVERYTHING after it. Therefore, most of the amino acids will be different than the ones intended when it is translated.Therefore, frameshift mutations have the large effect.
Which mutation is the most dangerous?
There is no definite answer to this question many types of mutations can cause death and I'd say that's the most dangerous effect of a mutation. Large Scale mutations, like deletions or amplifications, usually cause the most damage because they effect whole chromosomes. Small Scale mutations are usually less dangerous because they only effect one gene. The worst small scale mutations are insertions and deletions because they change the reading frame. In my personal opinion, harmful mutations that occur in the tumor suppressor genes are the most dangerous because they are what prevent the mutations in cell from being duplicated and without them working a mutated cell can replicate uncontrollably.
How might karyotypes be useful to doctors?
Doctors can use karyotypes to determine the sex of an individual. They can also use karyotypes to determine whether an individual has an abnormal number of chromosomes or noticeable chromosomal mutations, such as large deletions, additions, or translocations.
What does duplication mutation mean?
Deletions and duplications of single-base pairs typically arise during homologous recombination and cause diseases. But what happens when a mutation occurs over multiple genes? Rearrangements of chromosomes include deletions of DNA sequences and duplications of segments, both of which can encompass thousands to hundreds of thousands of bases. Why do these large rearrangements occur? For one, certain structural features of the genome, also referred to as genome architecture, can render various regions fragile and thus prone to events such as chromosome breakage, which often result in translocations, deletions, and duplications. Often, these alterations happen due to errors during cell division when chromosomes align (Figure 1). Homologous recombination between areas of concentrated repeated sequences frequently creates deletions and duplications. Because they commonly involve more than one gene, the disorders caused by these large deletion and duplication mutations are often severe.
What happens in Duplication?
Deletions and duplications of single-base pairs typically arise during homologous recombination and cause diseases. But what happens when a mutation occurs over multiple genes? Rearrangements of chromosomes include deletions of DNA sequences and duplications of segments, both of which can encompass thousands to hundreds of thousands of bases. Why do these large rearrangements occur? For one, certain structural features of the genome, also referred to as genome architecture, can render various regions fragile and thus prone to events such as chromosome breakage, which often result in translocations, deletions, and duplications. Often, these alterations happen due to errors during cell division when chromosomes align (Figure 1). Homologous recombination between areas of concentrated repeated sequences frequently creates deletions and duplications. Because they commonly involve more than one gene, the disorders caused by these large deletion and duplication mutations are often severe.
Is Wolf-Hirschhorn Syndrome a small deletion or large?
It can be either. The size of the deletion varies among affected individuals and studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions.
What can cause an unconformity?
Unconformities occur when erosion wears away rock, or when rock deposits are never formed.
Can a genetic counselor use a karyotype to identify a carrier of cystic fibrosis why?
No, a karyotype looks at the physical structure of the chromosomes. Cystic fibrosis is caused by mutations in the CFTR gene. Karyotypes cannot identify a mutation at the base pair level, only large deletions, duplications, rearrangements of the chromosomes. It would be comparable to trying to use a magnifying glass to look at electrons.
What are consequences of mutation?
most mutations are silent (and therefore have no effect). of the mutations that have an effect, you can have deletions, additions, point mutations and frameshifts. deletion is when a large section of the DNA is deleted, for example a whole gene, or a large proportion of it. addition is when a large section of DNA is added (this is most common in bacteria, undergoing horrizontal gene transfer, but is also how plants probably got the genes required for photosynthesis for example). point mutations is when one DNA base is changed. these are mostly due to mistakes in DNA replication, are often silent, but can change single aminoacids, and is probably the greatest source of variation within a single species (or population). frameshifts are also caused by ineffective DNA replication, but rather than a base changing, an extra on is added or one is missed out. this changes the way inwhich the cellular machinary reads the DNA, so if it occours within a gene it often means that the gene is now ineffective at the job it was supposed to do before. ben
Whats the purpose of a multiplex PCR?
The purpose of a multiplex polymerase chain reaction is to rapidly detect duplication's in a large gene, or to find deletions in a large gene. There are also many other uses for the multiplex PCR as well.
De Vries believed the process of evolution was driven by what?
Mutations. He was the father of saltation. The big jump idea that organisms could make large morphological changes by beneficial mutations all at once.
What is the difference between gene and chromosomal mutation?
A gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations range in size from a single DNA building block (DNA base) to a large segment of a chromosome. A chromosomal mutation is a mutation involving a long segment of DNA, it is a any change in the structure or arrangement of the chromosomes. These mutations can involve deletions, insertions, or inversions of sections of DNA. In some cases, deleted sections may attach to other chromosomes, disrupting both the chromosomes that loses the DNA and the one that gains it.It is also referred to as a chromosomal rearrangement The differences between Gene mutation and Chromosome mutation are ; 1- Chromosome mutations involve changes in the structure of a chromosome OR the loss or gain of a chromosome while Gene mutations involve a change in the nucleotide -base sequence of a gene on a DNA molecule. 2- Chromosomal mutations are changes in the structure or the numbers of chromosomes (a gain or loss). Gene mutations involve changes in the nucleotide sequence of the DNA molecule. 3-A gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations range in size from a single DNA building block (DNA base) to a large segment of a chromosome while a chromosomal mutation is a mutation involving a long segment of DNA, it is a any change in the structure or arrangement of the chromosomes. These mutations can involve deletions, insertions, or inversions of sections of DNA. In some cases, deleted sections may attach to other chromosomes, disrupting both the chromosomes that loses the DNA and the one that gains it.It is also referred to as a chromosomal rearrangement 4-gene mutation is just a substitute in any old random nucleotide for any old random nucleotide chromosome mutation is missing of chromosome or +1 chromosome (down's syndrome).
What is the original source of all the different alleles of a genes?
A mutation in a pre-existing gene. If the mutation effects the phenotype derived from the gene, it is determined to be a different allele. Mutations can be small (such as a single nucleotide polymorphism) or large (such as entire genome duplication).
