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1. Patients with Hurler™s syndrome (252800) are known to have mutations
at the L-iduronidase locus. The diagnosis of Hurler™s syndrome is most efficiently
made by analyzing a patient™s DNA for
a. A region of DNA that does not encode RNA
b. Alternative forms of the L-iduronidase gene
c. The entire set of genes in one leukocyte
d. A nucleotide substitution in the L-iduronidase gene
e. The position of the L-iduronidase gene on a chromosome
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d. A nucleotide substitution in the L-iduronidase gene
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Hurler syndrome is the most severe form of a lysosomal storage disease caused by loss of the enzyme -L-iduronidase (encoded by the IDUA gene), which participates in the degradation of glycosaminoglycans (GAGs) within the lysosome. In some populations, premature stop mutations represent roughly two-thirds of the mutations that cause Hurler syndrome
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dude! cut the slack on lalithavani..as much as i agree with u on criticising those who just post after their scores..i surely condemn ur language.!please tone it down!