Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Compound_heterozygosity> ?p ?o. }
Showing items 1 to 21 of
21
with 100 items per page.
- Compound_heterozygosity abstract "Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. That is, an organism is a compound heterozygote if 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 mutated but at different locations). Compound heterozygosity reflects the diversity of the mutation base for many autosomal recessive genetic disorders; mutations in most disease-causing genes have arisen many times. This means that many cases of disease arise in individuals who have two unrelated alleles, who technically are heterozygotes, but both the alleles are defective. These disorders are often best known in some classic form, such as the homozygous recessive case of a particular mutation that is widespread in some population. In its compound heterozygous forms, the disease may have lower penetrance, because the mutations involved are often less deleterious in combination than for a homozygous individual with the classic symptoms of the disease. As a result, compound heterozygotes often become ill later in life, with less severe symptoms. Although compound heterozygosity as a cause of genetic disease had been suspected much earlier, widespread confirmation of the phenomenon was not feasible until the 1980s, when polymerase chain reaction techniques for amplification of DNA made it cost-effective to sequence genes and identify polymorphic alleles.".
- Compound_heterozygosity wikiPageID "9192883".
- Compound_heterozygosity wikiPageRevisionID "569630008".
- Compound_heterozygosity hasPhotoCollection Compound_heterozygosity.
- Compound_heterozygosity subject Category:Autosomal_recessive_disorders.
- Compound_heterozygosity subject Category:Genetics.
- Compound_heterozygosity type Abstraction100002137.
- Compound_heterozygosity type Attribute100024264.
- Compound_heterozygosity type AutosomalRecessiveDisorders.
- Compound_heterozygosity type Condition113920835.
- Compound_heterozygosity type Disorder114052403.
- Compound_heterozygosity type PhysicalCondition114034177.
- Compound_heterozygosity type State100024720.
- Compound_heterozygosity comment "Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. That is, an organism is a compound heterozygote if 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 mutated but at different locations).".
- Compound_heterozygosity label "Compound heterozygosity".
- Compound_heterozygosity sameAs m.027_ssy.
- Compound_heterozygosity sameAs Q5156837.
- Compound_heterozygosity sameAs Q5156837.
- Compound_heterozygosity sameAs Compound_heterozygosity.
- Compound_heterozygosity wasDerivedFrom Compound_heterozygosity?oldid=569630008.
- Compound_heterozygosity isPrimaryTopicOf Compound_heterozygosity.