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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.
Zygosity is an important factor in human medicine. If one copy of an essential gene is mutated, the (heterozygous) carrier is usually healthy. However, more than 1,000 human genes appear to require both copies, that is, a single copy is insufficient for health. This is called haploinsufficiency. [8]
14067 Ensembl ENSG00000198734 ENSMUSG00000026579 UniProt P12259 O88783 RefSeq (mRNA) NM_000130 NM_007976 RefSeq (protein) NP_000121 NP_032002 Location (UCSC) Chr 1: 169.51 – 169.59 Mb Chr 1: 163.98 – 164.05 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in ...
Females acquire one X-chromosome from their father and one from their mother, and this means they can either be heterozygous for the mutated allele or homozygous. If heterozygous, she is a carrier of the mutated allele because the disease is recessive. If homozygous, she has the disease.
In fact, Factor V Leiden is the most common cause of inherited thrombosis. [26] 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]
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 ...
Figure 1: Inheritance pattern of dominant (red) and recessive (white) phenotypes when each parent (1) is homozygous for either the dominant or recessive trait. All members of the F 1 generation are heterozygous and share the same dominant phenotype (2), while the F 2 generation exhibits a 6:2 ratio of dominant to recessive phenotypes (3).
Under the law of dominance in genetics, an individual expressing a dominant phenotype could contain either two copies of the dominant allele (homozygous dominant) or one copy of each dominant and recessive allele (heterozygous dominant). [1] By performing a test cross, one can determine whether the individual is heterozygous or homozygous ...