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Autosomal dominant and autosomal recessive inheritance, the two most common Mendelian inheritance patterns. An autosome is any chromosome other than a sex chromosome.. In genetics, dominance is the phenomenon of one variant of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome.
The upper DNA molecule differs from the lower DNA molecule at a single base-pair location (a G/A polymorphism). In genetics and bioinformatics, a single-nucleotide polymorphism (SNP / snɪp /; plural SNPs / snɪps /) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the ...
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Huntington's disease is an autosomal dominant mutation in the HTT gene. The disorder causes degradation in the brain, resulting in uncontrollable movements and behavior. [17] The mutation involves an expansion of repeats in the Huntington protein, causing it to increase in size. Patients who have more than 40 repeats will most likely be affected.
Huntington's disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat (the mutant allele) from an affected parent. [26] Since the penetrance of the mutation is very high, those who have a mutated copy of the gene will have the disease.
Lactase persistence or lactose tolerance is the continued activity of the lactase enzyme in adulthood, allowing the digestion of lactose in milk. In most mammals, the activity of the enzyme is dramatically reduced after weaning. [ 1 ] In some human populations though, lactase persistence has recently evolved [ 2 ] as an adaptation to the ...
In bacteria, transformation is a process of gene transfer that ordinarily occurs between individual cells of the same bacterial species. Transformation involves integration of donor DNA into the recipient chromosome by recombination. This process appears to be an adaptation for repairing DNA damages in the recipient chromosome by HRR. [12]
Genetic linkage. Genetic linkage is the tendency of DNA sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Two genetic markers that are physically near to each other are unlikely to be separated onto different chromatids during chromosomal crossover, and are therefore said ...