Abstract
Mucopolysaccharidosis type I (Hurler) and IIIA (Sanfilippo A) are metabolic storage disorders. They result from mutations in IDUA and SGSH genes located on chromosomes 4 and 17, respectively. In order to determine the genetic background's effect on the severity of Hurler syndrome in Moroccan patients and to establish its state in controls, R105Q, N297, A314, IVS12+72 t>g, and IVS12+75 g>t polymorphisms in the IDUA gene are searched for by direct sequencing of PCR products derived from genomic DNA of 83 subjects, including 14 Hurler patients, 18 of their relatives and controls for causing mucopolysaccharidosis type I allele, including 50 healthy individuals, and a Sanfilippo A patient. None of 14 patients has these polymorphisms. The IVS12+72 t>g and IVS12+75 g>t are, one or the other, randomly present in their relatives, but absent in healthy controls. The relative frequencies of the R105Q, N297, and A314 sites in healthy controls are 0.2, 0.1, and 0.25, respectively. The Sanfilippo A subject is the only one, heteroallelic for all of them. The investigated sites being neutral towards our Hurler patients, and randomly present in other subjects are thus, not useful for explaining variations in the severity of mucopolysaccharidosis type I in Moroccan patients.
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