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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.
Autosomal genetic disorders which exhibit Mendelian inheritance can be inherited either in an autosomal dominant or recessive fashion. [7] These disorders manifest in and are passed on by either sex with equal frequency. [7] [8] Autosomal dominant disorders are often present in both parent and child, as the child needs to inherit only one copy ...
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease [7] that is mostly inherited. [8] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. [9][1] A general lack of coordination and an unsteady gait often follow. [2] It is also a basal ganglia disease ...
Medical genetics. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. [1][2] It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and ...
Each line shows one of the three possible genotypes. In population genetics, the Hardy–Weinberg principle, also known as the Hardy–Weinberg equilibrium, model, theorem, or law, states that allele and genotype frequencies in a population will remain constant from generation to generation in the absence of other evolutionary influences.
For the singular, see SNP (disambiguation). 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.
Specialty. Endocrinology. Maturity-onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene disrupting insulin production. [1] Along with neonatal diabetes, MODY is a form of the conditions known as monogenic diabetes.
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.