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Mendelian Genetics and Molecular Biology

Smirniotopoulos, M.D. JGSM - MedPix (2009)

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Affiliation: Uniformed Services University

ABSTRACT

In classic Mendelian inheritance, the phenotype for an autosomal dominant disease is expressed in the heterozygous case; and, expression of the recessive phenotype requires two genes/mutations and is homozygous. In the case of tumor suppressor genes (e.g. Retinoblastoma, some phakomatoses, etc.) the condition appears to be autosomal dominant - but at the cell level, actually requires loss of BOTH copies of the gene - like a recessive disorder. The reason the inheritance appears dominant, is that the point rate of mutation is high enough that second gene will become mutated in somatic cell - allowing expression of the disease or syndrome. Sound paradoxical - but at the cell level it is "recessive" (homozygous for the mutation); while at the organism level, it is "dominant" - heterozygous.

No MeSH data available.


Tumor suppressor genes often display Mendelian characteristics of an autosomal dominant disease.  At the level of the cell, however, there is a loss of BOTH copies of the gene - similar to autosomal recessive disorders.
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MPX2736_synpic50400: Tumor suppressor genes often display Mendelian characteristics of an autosomal dominant disease. At the level of the cell, however, there is a loss of BOTH copies of the gene - similar to autosomal recessive disorders.


Mendelian Genetics and Molecular Biology

Smirniotopoulos, M.D. JGSM - MedPix (2009)

Tumor suppressor genes often display Mendelian characteristics of an autosomal dominant disease.  At the level of the cell, however, there is a loss of BOTH copies of the gene - similar to autosomal recessive disorders.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=MPX2736&req=5

MPX2736_synpic50400: Tumor suppressor genes often display Mendelian characteristics of an autosomal dominant disease. At the level of the cell, however, there is a loss of BOTH copies of the gene - similar to autosomal recessive disorders.

View Article: MedPix Image - MedPix Topic

Affiliation: Uniformed Services University

ABSTRACT

In classic Mendelian inheritance, the phenotype for an autosomal dominant disease is expressed in the heterozygous case; and, expression of the recessive phenotype requires two genes/mutations and is homozygous. In the case of tumor suppressor genes (e.g. Retinoblastoma, some phakomatoses, etc.) the condition appears to be autosomal dominant - but at the cell level, actually requires loss of BOTH copies of the gene - like a recessive disorder. The reason the inheritance appears dominant, is that the point rate of mutation is high enough that second gene will become mutated in somatic cell - allowing expression of the disease or syndrome. Sound paradoxical - but at the cell level it is "recessive" (homozygous for the mutation); while at the organism level, it is "dominant" - heterozygous.

No MeSH data available.