blueocean
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Molecular genetic studies are performed on a family with known familial hypercholesterolemia. In this particular family, the defect in the LDL receptor gene involves a messenger mutation near the 11th exon, in the region of homology with epidermal growth factor receptor precursor. A defect at this site would be most likely to produce which of the following effects?
A. Decreased transcription of LDL receptor gene
B. Poor internalization of LDL bound to LDL receptor
C. Poor retention of the LDL receptor in the membrane
D. Reduced binding of LDL
E. Trapping of the LDL receptor in the endoplasmic reticulum
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| alexaE
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i think B
interesting question
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| new_n_lost
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A??
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| sridevibandaru24
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A?
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| sf
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whats the answer
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| blueocean
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Is E.
More than 200 mutations in the gene for the LDL receptor have been identified. The gene has 5 general domains and 18 exons. Defects near exons 7 to 14 (including this case) are in the region of homology with epidermal growth factor receptor precursor. This region of the molecule is needed for dissociation of LDL from the receptor in
the endosome. Receptors with a defect in this area (sometimes called class II mutations) also have trouble being initially transported to the Golgi complex (transport-deficiency alleles) and become trapped in endoplasmic reticulum.
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| young_doc
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This is a ridiculously nit-picky question...but yes the answer is E.
"This domain is responsible for the acid-dependant dissociation of lipoproteins from the LDL-receptor in the endosome during receptor recycling to the membrane"
http://www.msmbb.org.my/apjmbb/html112/pg77.pdf#s... (page 5)
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| kingusmle
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the qs says it that bcoz mRNA not ribosomal is defective ,it will be trapped inside the ER...transcription has already occurred and when mRNA did not get out of ER the rest of the choices have no significance
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| lq2006
Forum Elite
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It's a Qbank question and the answer is E
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