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[h] Biochemistry Flashcards

[i] Master this session in just 5 minutes.

[q] 2 patients with neurofibromatosis type 1 (NF1) have varying disease severity is an example of ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZhcmlhYmxlIGV4cHJlc3Npdml0eS4=[Qq]

[q] Not all individuals with a mutant genotype show the mutant phenotype is an example of ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEluY29tcGxldGUgcGVuZXRyYW5jZS4=[Qq]

[q] The occurrence of multiple phenotypic manifestations, often in different organ systems, because of a single genetic defect is an example of ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBsZWlvdHJvcHku[Qq]

[q] Increased severity or earlier onset of disease in succeeding generations in Trinucleotide repeat diseases is an example of ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFudGljaXBhdGlvbi4=

[q] Mutations at different loci can produce a similar phenotype is an example of ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExvY3VzIGhldGVyb2dlbmVpdHku[Qq]

[q] Different mutations in the same locus produce the same phenotype is an example of ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFsbGVsaWMgaGV0ZXJvZ2VuZWl0eS4=[Qq]

[q] ………… is carried out by DNA methyltransferases that transfer methyl groups from methyl group donors (such as S-adenosyl-methionine) to cytosine residues in the DNA molecule.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEROQSBpbXByaW50aW5nLg==[Qq]

[q] …….. occurs when the Paternal allele of the gene on chromosome 15 is deleted or mutated. It presents with hyperphagia, obesity, intellectual disability, hypogonadism, and hypotonia. 25% of cases due to maternal uniparental disomy.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFByYWRlci1XaWxsaSBzeW5kcm9tZS4=[Qq]

[q] …….. occurs when the maternal allele of the gene on chromosome 15 is deleted or mutated. It presents with inappropriate laughter (“happy puppet”), seizures, ataxia, and severe intellectual disability. 5% of cases due to paternal uniparental disomy.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFuZ2VsTWFuIHN5bmRyb21lLg==[Qq]

[q] Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent is an example of ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFVuaXBhcmVudGFsIGRpc29teS4=[Qq]

[q] Female with turner syndrome has a karyotype of 45, X/46, XX. This is an example of ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNvbWF0aWMgbW9zYWljaXNtLg==

[q] If patient has a genetic disease, but his parents and his relatives don’t have the disease suspect ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGdvbmFkYWwgKG9yIGdlcm1saW5lKSBtb3NhaWNpc20u

[q] Tendency for certain alleles at 2 linked loci to occur together more or less often than expected by chance is an example of …….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExpbmthZ2UgZGlzZXF1aWxpYnJpdW0u

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