X-linked recessive Hunter syndrome (mucopolysaccharidosis type II) is a heritable disorder characterized by a deficiency of the lysosomal enzyme iduronate-2-sulphatase. Carrier detection of the disease was studied in two families by molecular analyses. In the first family unequivocal evidence of the carrier status was obtained both by Southern and Northern blot techniques, demonstrating that these methods are a valuable diagnostic tool in genetic counselling of cases where an aberrant pattern is present. In the second family, the intragenic RFLP analysis allowed an accurate genotype diagnosis.
Identification of the carrier status in Hunter syndrome by molecular analyses
DANIELE, Aurora;
1994
Abstract
X-linked recessive Hunter syndrome (mucopolysaccharidosis type II) is a heritable disorder characterized by a deficiency of the lysosomal enzyme iduronate-2-sulphatase. Carrier detection of the disease was studied in two families by molecular analyses. In the first family unequivocal evidence of the carrier status was obtained both by Southern and Northern blot techniques, demonstrating that these methods are a valuable diagnostic tool in genetic counselling of cases where an aberrant pattern is present. In the second family, the intragenic RFLP analysis allowed an accurate genotype diagnosis.File in questo prodotto:
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