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What is isogenic mutation?
Isogenic mutation refers to a genetic mutation that occurs in an organism's DNA, resulting in a change in a specific gene or genes. It is called isogenic because it affects only a specific gene in an otherwise identical genetic background. This type of mutation is often used in research to study the effects of a single gene mutation without any additional genetic variability.
What is the meaning of neurofibermatosis?
Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop.
What are the possible genotypes of the parents of a child with Rett Syndrome?
The parents have normal sex chromosome genotypes, XX and XY. The chromosomal error that causes Klinefelter's syndrome occurs during the formation of either of the parent's gametes during meiosis.
Is lobster claw syndrome dominant or recessive?
Lobster claw syndrome, or Ectrodactyly, is a rare genetic condition caused by a mutation in the TP63 gene, which is inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene is needed to display the syndrome.
What will happen if there was a change in the base pair sequence?
Changing a base pair on a human chromosome (or any organism's chromosome) can range from no effect to catastrophic. The changing of a base pair -- a mutation -- can either result in a nonsense mutation, a missense mutation, or a silent mutation.A nonsense mutation changes a codon upstream of the normal stop codon into a stop codon, resulting in a truncated protein. Such proteins are non-functional and usually result in a non-viable offspring although some can survive (with serious genetic disorders).A missense mutation is just like a nonsense mutation, except the codon isn't changed into a stop codon and the protein does not terminate early. The only difference between the normal protein and the affected protein is that the affected protein will have one amino acid along the polypeptide chain that is different. The affects of such a change can change the shape of the protein entirely, seen with sickle-cell anemia.A silent mutation has no effect on the protein produced. There are only 20 amino acids, but 43 variations of four bases arranged three at a time (in other words, there are 64 different codons possible). Accordingly, more than one codon can code for the same amino acid. For example, both UAU and UAC code for the amino acid tyrosine. Imagine a point mutation replaced the U in UAU with a C making it UAC. Either way, the amino acid that will be used will be tyrosine, in no way changing the structure of the protein. For that reason, these mutations are "silent" or having no effect.
A mutation that involves a single nucleotide is called a(an)?
Point Mutation- a type of gene mutation in which only a single nucleotide in a gene has been changed.
Is mutation dominate or recessive?
it depends on what mutation you speak of. some are and some are not.
What is the role of heredity in myotonic dystrophy?
DM is inherited through autosomal dominant inheritance. This means that equal numbers of males and females are affected. It also means that only one gene in the pair needs to have the mutation in order for a person to be affected.
How many chromosome do you have when you have fragile x syndrome?
Fragile X syndrome is caused by a mutation that prevents the Fragile X mental retardation (Fmr-1) gene from being transcribed. This gene is located on the X chromosome (the sex chromosome). Since males only carry one of these chromosomes, they are twice as likely to be affected by the mutation than females.
How is progeria inherited?
According to the Progeria Research Foundation progeria is caused by a 'sporadic autosomal dominant' mutation.A mutation is a change in a gene.Sporadic means that the mutation occurs at random, and is not usually inherited from a parent.Autosomal means that the gene is located on one of the 22 pairs of non-sex chromosomes in the cell nucleus. In fact research has shown that the gene is on chromosome number one.Dominant means that you only need one copy of the gene to develop the disease. So one chromosome in the pair can have a normal gene and the other chromosome can have the mutant gene.
What is isogenic mutation?
Isogenic mutation refers to a genetic mutation that occurs in an organism's DNA, resulting in a change in a specific gene or genes. It is called isogenic because it affects only a specific gene in an otherwise identical genetic background. This type of mutation is often used in research to study the effects of a single gene mutation without any additional genetic variability.
Which chromosome contains the gene for hemophilia?
The X chromosome. That's why it's more common in males; females have 2 X chromosomes, but males only have 1. So if a woman has the hemophilia mutation on one of her chromosomes, she probably won't be affected by it.
Blue Rubber Bleb Nevus Syndrome how does it inherited?
From Wikipedia: "the condition follows autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child."
What form of Niemann Pick can be inherited?
All forms of NPD are inherited autosomal recessive disorders, requiring the presence of an inherited genetic mutation in only one copy of the gene responsible for the disease. Both males and females are affected equally.
Is progeria autosomal?
yes it is, only 1 mutation to the lmna gene is sufficent for someone to express traits regarding progeria
Is progeria a recessive or dominant disorder?
yes it is, only 1 mutation to the lmna gene is sufficent for someone to express traits regarding progeria
Why does a single gene mutate?
A single gene will mutate when DNA replication did not occur properly. It means that when replicating, the DNA only slipped up on a single gene when copying, causing a mutation. Mutations are accidental and are not done on purpose.
