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Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in coagulation, encoded, in humans, by F5 gene. [5] In contrast to most other coagulation factors, it is not enzymatically active but functions as a cofactor . [ 5 ]
Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C. The gene that codes the protein is referred to as F5.
Heterozygous factor V Leiden is present in approximately 5% of the white population in the United States and homozygous factor V Leiden is found less than 1% of this population. [27] Factor V Leiden is much more common in individuals of Northern European descent and in some Middle Eastern populations.
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 ...
The words homozygous, heterozygous, and hemizygous are used to describe the genotype of a diploid organism at a single locus on the DNA. Homozygous describes a genotype consisting of two identical alleles at a given locus, heterozygous describes a genotype consisting of two different alleles at a locus, hemizygous describes a genotype consisting of only a single copy of a particular gene in an ...
If homozygous, they have the disease. All offspring of an affected individual are either heterozygous or homozygous for the mutated allele. Consequently, all unaffected (heterozygous) offspring of an affected individual are obligate carriers of the disease because they will necessarily carry the mutated allele. [8]
In the example on the right, both parents are heterozygous, with a genotype of Bb. The offspring can inherit a dominant allele from each parent, making them homozygous with a genotype of BB. The offspring can inherit a dominant allele from one parent and a recessive allele from the other parent, making them heterozygous with a genotype of Bb.
The phenotype of a homozygous dominant pair is 'A', or dominant, while the opposite is true for homozygous recessive. Heterozygous pairs always have a dominant phenotype. [ 11 ] To a lesser degree, hemizygosity [ 12 ] and nullizygosity [ 13 ] can also be seen in gene pairs.