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Does fragile x syndrom have a mutation?
Yes, fragile X syndrome is caused by a mutation in the FMR1 gene on the X chromosome. This mutation leads to a lack of production of a protein called FMRP, which is essential for normal brain development.
How does a somatic mutation in a gene alter the function of a cell?
A somatic mutation in a gene can alter the function of a cell by changing the instructions encoded in the gene, leading to abnormal protein production or function. This can disrupt normal cellular processes and potentially contribute to diseases like cancer.
What is null allele?
A null allele is a mutant copy of gene that completely lacks that gene's normal function. This can be the result of the complete absence of the gene product (protein, RNA) at the molecular level, or the expression of a non-functional gene product. At the Phenotypic level, a null allele is indistinguishable from a deletion of the entire locus.
What are the key differences between gene knockout and knockdown techniques, and how do they impact the study of gene function and regulation?
Gene knockout involves completely eliminating a gene's function, while knockdown reduces its activity. Knockout provides more definitive results but may have unintended effects, while knockdown allows for temporary and reversible changes. Both techniques help understand gene function and regulation, but knockout is more precise for studying essential genes.
What is the primary function of a gene in an organism's genetic makeup?
The primary function of a gene in an organism's genetic makeup is to provide instructions for making specific proteins that are essential for the organism's growth, development, and overall functioning.
Is fragile X syndrome related to klinefelster?
No, Klinefelter is due to an extra chromosome, Fragile X is due to the FMR1 gene being turned off and producing no FMR1 protein
What causes disease fragile x?
The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome.Expansion of the CGG repeating codon to such a degree results in a methylation of that portion of the DNA, effectively silencing the expression of the FMR1 protein.Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP.
Where on the X chromosome does Fragile X take place?
Fragile X is a result of a mutation in the FMR1 gene on the X chromosome.
What cause fragile X syndrome?
The fragile X syndrome is a genetic disorder caused by mutation of the FMR1 gene on the X chromosome.
Does fragile x syndrom have a mutation?
Yes, fragile X syndrome is caused by a mutation in the FMR1 gene on the X chromosome. This mutation leads to a lack of production of a protein called FMRP, which is essential for normal brain development.
How many people in the world are fragile x carriers and what is their origin?
Fragile X syndrome is caused by a mutation in the FMR1 gene, and approximately 1 in 260 women and 1 in 800 men are carriers of the mutation globally. The prevalence can vary by population, with higher carrier rates observed in certain ethnic groups, particularly those of European descent. The origin of the fragile X mutation is believed to date back several generations, with the expansion of CGG repeats in the FMR1 gene being the primary cause. This genetic condition is inherited in an X-linked manner, meaning it is passed down through families.
What is the definition of microbial genetics?
it is the study of gene and gene function in micro organisms.
How is it possible for a point mutation to have no effect on the function of gene?
If the point mutation does not change the protein to be translated in the 3-letter sequence, then it will have no effect on the gene's function.
Who determines gene function?
genetic engineer
How does a somatic mutation in a gene alter the function of a cell?
A somatic mutation in a gene can alter the function of a cell by changing the instructions encoded in the gene, leading to abnormal protein production or function. This can disrupt normal cellular processes and potentially contribute to diseases like cancer.
What is null allele?
A null allele is a mutant copy of gene that completely lacks that gene's normal function. This can be the result of the complete absence of the gene product (protein, RNA) at the molecular level, or the expression of a non-functional gene product. At the Phenotypic level, a null allele is indistinguishable from a deletion of the entire locus.
What is an antimorph?
An antimorph is a gain of function mutation which acts in opposition to the normal gene's function.
