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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...

Topics

Amino Acid Sequence
Base Sequence
DNA Primers
DNA, Complementary
Fabry Disease
Female
Genetic Carrier Screening
Genetic Linkage
Genotype
Haplotypes
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Polymorphism, Restriction Fragment Length

Pregnancy

Prenatal Diagnosis

Trinucleotide Repeats

X Chromosome

Source

Identifiers

PMID: 9268104

Provenance

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