Compare the allele in question to known mutant alleles. If similar, it si probably a mutant as well.
b. Males and Females have an equal chance of inheriting the mutant allele. Autosomal recessive diseases can affect males and females equally because the inheritance of the mutant allele is not linked to the sex chromosomes. The disease can skip generations due to carriers passing on the mutant allele without showing symptoms.
Huntington disease is autosomal dominant, meaning that individuals who inherit one copy of the mutant allele from either parent will develop the disease. Thus, individuals with Huntington's disease are heterozygous for the mutant allele. Homozygous individuals would not survive past a certain age due to the severity of the disorder.
Yes. Most cases of achondroplasia are associated with a dominant mutant form of the FGFR3 gene. Thus, if someone with achondroplasia has children with a person without achondroplasia, 50% of the offspring would be predicted to inherit the disorder. If two people with achondroplasia were to have children, 50% would inherit acondroplasia (i.e. would be heterozygous for the mutant FGFR3 allele), 25% would be normal, and 25% would inherit two copies of the mutant FGFR3 allele, a condition which is almost certainly lethal.
A dominant allele is expressed when an individual carries one or two copies of that allele. A recessive allele is only expressed when an individual carries two copies of that allele. Dominant alleles are typically passed on to offspring if at least one parent carries the dominant allele.
If carried on a dominant allele, you either inherit it- and have the disease- or you don't- and do not have the disease, nor the gene that causes it. If you don't have the gene, you can not pass it to your offspring.
b. Males and Females have an equal chance of inheriting the mutant allele. Autosomal recessive diseases can affect males and females equally because the inheritance of the mutant allele is not linked to the sex chromosomes. The disease can skip generations due to carriers passing on the mutant allele without showing symptoms.
It may not be a "mutant" allele but a recessive allele that offers other (perhaps yet-unknown) benefits. Or, it has never caused a significant enough problem to have evolved out of the genome.
An example of allele frequency is when in a population of 100 individuals, 60 individuals have the dominant allele (A) for a specific gene, while 40 individuals have the recessive allele (a). The frequency of the dominant allele (A) would be 0.6, and the frequency of the recessive allele (a) would be 0.4.
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.
Huntington disease is autosomal dominant, meaning that individuals who inherit one copy of the mutant allele from either parent will develop the disease. Thus, individuals with Huntington's disease are heterozygous for the mutant allele. Homozygous individuals would not survive past a certain age due to the severity of the disorder.
Yes. Most cases of achondroplasia are associated with a dominant mutant form of the FGFR3 gene. Thus, if someone with achondroplasia has children with a person without achondroplasia, 50% of the offspring would be predicted to inherit the disorder. If two people with achondroplasia were to have children, 50% would inherit acondroplasia (i.e. would be heterozygous for the mutant FGFR3 allele), 25% would be normal, and 25% would inherit two copies of the mutant FGFR3 allele, a condition which is almost certainly lethal.
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Sickle cell anemia is found in high frequency because it is a codominant mutation. It only requires one allele for the gene to manifest.
To find allele frequency in a population, you can calculate it by dividing the number of copies of a specific allele by the total number of alleles in the population. This can help determine how common a particular gene variant is within a group of individuals.
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