Amplification and analysis of promoter region of insulin receptor gene in a patient with leprechaunism associated with severe insulin resistance

Metabolism: Clinical and Experimental
T HarutaM Kobayashi

Abstract

A patient with leprechaunism associated with severe insulin resistance was studied to identify the molecular and genetic basis for insulin resistance. Insulin binding and surface labeling of transformed lymphocytes prepared from the patient showed a significantly decreased insulin receptor number on the cell surface. Southern blot analysis of the insulin receptor gene showed no evidence of large insertions or deletions. Furthermore, direct sequencing of all 22 exons and exon-intron junctions of the insulin receptor gene failed to show any missense mutations, nonsense mutations, or mutations at exon-intron junctions. However, Northern blot analysis indicated significantly decreased insulin receptor mRNA expression in the patient's cells. Moreover, restriction endonuclease digestion of the amplified cDNA suggested that the expression levels of one allele were less efficient than the other. These findings suggested that the regulatory region of the insulin receptor gene might have abnormalities. Therefore, we examined the 5' flanking region of the insulin receptor gene. Southern blot analysis showed no major deletions or insertions between positions -1,823 and -2 relative to the translation initiation site. A 5' flanking region of...Continue Reading

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Citations

Oct 21, 2015·Hormone Molecular Biology and Clinical Investigation·Atul S Deshmukh
Dec 5, 2019·Genes·Sandhya PayankaulamDavid N Arnosti
Sep 10, 2019·European Journal of Pharmacology·Bhoomika M Patel, Ramesh K Goyal

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