What type of mutation is fragile x syndrome?
Fragile X syndrome is inherited in an X-linked dominant pattern. Women with a premutation have an increased risk of having an affected child. It is typically due to an expansion of the CGG triplet repeat within the "Fragile X mental retardation 1" ("FMR1") gene on the X chromosome. This results in not enough of the fragile X mental retardation protein (FMRP), which is required for the normal development of connections between neurons. Diagnosis requires genetic testing to determine the number of CGG repeats in the "FMR1" gene. Normal is between 5 and 40 repeats, fragile X syndrome occurs with more than 200, and a premutation is said to be present when an intermediate number of repeats occurs. Testing for premutation carriers may allow for genetic counseling.
What gene is typically mutated in fragile x syndrome?
FMRP translational regulator 1 fragile X mental retardation 1 FRAXA POF FMRP FMR1 POF1
Fragile X syndrome
Fragile X syndrome is inherited in an X-linked dominant pattern. Women with a premutation have an increased risk of having an affected child. It is typically due to an expansion of the CGG triplet repeat within the "Fragile X mental retardation 1" ("FMR1") gene on the X chromosome. This results in not enough of the fragile X mental retardation protein (FMRP), which is required for the normal development of connections between neurons. Diagnosis requires genetic testing to determine the number of CGG repeats in the "FMR1" gene. Normal is between 5 and 40 repeats, fragile X syndrome occurs with more than 200, and a premutation is said to be present when an intermediate number of repeats occurs. Testing for premutation carriers may allow for genetic counseling.
What type of mutation causes a nucleotide repeat disorder like fragile x syndrome?
triplet repeat expansion triplet repeat trinucleotide repeat expansion
Fragile X syndrome
No context provided
What type of mutation, occurring in fragile x syndrome, is characterized when the likelihood of mutant phenotype expression is a function of the number of copies of said mutation?
dynamic mutation dynamic
Mutation
https://en.wikipedia.org/wiki/Mutation
Fragile X syndrome
https://en.wikipedia.org/wiki/Fragile%20X%20syndrome
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability.
Fragile X syndrome
In genetics, a dynamic mutation is an unstable heritable element where the probability of expression of a mutant phenotype is a function of the number of copies of the mutation.
Dynamic mutation
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. It is typically due to an expansion of the CGG triplet repeat within the "Fragile X mental retardation 1" ("FMR1") gene on the X chromosome. In FXS syndrome, dynamic mutation is an unstable heritable element where the probability of expression of a mutant phenotype is a function of the number of copies of the mutation.