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Article

Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.

American journal of medical genetics - 22 Aug 1997

Caggana M, Ashley G A, Desnick R J, Eng C M

Abstract excerpt

Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism that results from the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). A rapid, reliable, and universal linkage method was developed for molecular carrier detection and prenatal diagnosis. By determining the informativeness and phase of amplifiable intragenic RFLPs (NcoI and SacI), flanking RFLPs...

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PMID: 9268104

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