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In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
DNA molecule 1 differs from DNA molecule 2 at a single base-pair location (a C/A polymorphism). A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent.
Homozygous and heterozygous. Zygosity (the noun, zygote, is from the Greek zygotos "yoked," from zygon "yoke") (/ z aɪ ˈ ɡ ɒ s ɪ t i /) is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism.
In structural biology, a heterologous association is a binding mode between the protomers of a protein structure. [3] In a heterologous association, each protomer contributes a different set of residues to the binding interface.
People who have hemoglobin E trait (heterozygous) are asymptomatic and their state does not usually result in health problems. They may have a low mean corpuscular volume (MCV) and very abnormal red blood cells ( target cells ), but clinical relevance is mainly due to the potential for transmitting E or β-thalassemia.
A transheterozygote is a diploid organism that is heterozygous at two different loci (genes). Each of the two loci has one natural (or wild type) allele and one allele that differs from the natural allele because of a mutation. Such an organism can be created by crossing together two organisms that carry one mutation each, in two different ...
Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygous. [3] The ordered list of loci known for a particular genome is called a gene map.
A heterozygous missense mutation in the HK1 gene (a change at position 847 from glutamate to lysine) has been linked to retinitis pigmentosa. [ 23 ] [ 17 ] Since this substitution mutation is located far from known functional sites and does not impair the enzyme's glycolytic activity, it is likely that the mutation acts through another ...