abueso
Forum Newbie
Topics: 9
Posts: 19
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VHL......Classified as Autosomal Dominant, however this is a deletion of the VHL gene(a tumor suppressor gene) and it is my understanding that according to Knudson's two hit theory, you need both alleles of a tumor suppressor to be mutated for phenotipic expression. Is this an example of Dominant Negative Mutation? I think it would still not be clear-cut Autosomal ressesive, but still feel a bit confused. Any thoughts.....?
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| Idiopathic
Forum Guru
Topics: 19
Posts: 641
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Yes, it is dominant negative, according to my research. One gene knocked out causes the disease.
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| abueso
Forum Newbie
Topics: 9
Posts: 19
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nice of you to reply.... thank you
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