Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
Am J Med Genet
; 71(3): 329-35, 1997 Aug 22.
Article
en En
| MEDLINE
| ID: mdl-9268104
ABSTRACT
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 (DXS94 and DXS17), and flanking microsatellite polymorphisms at Xq22.1 (DXS458, DXS454, DXS7424, DXS178, and DXS101), accurate carrier detection, and/or prenatal diagnosis was accomplished in three prototypic, unrelated Fabry families. All linkage diagnoses were confirmed by identification and analysis of the specific alpha-Gal A lesion in each family. Thus, molecular carrier detection and prenatal diagnoses can be performed rapidly and reliably by linkage analysis with intragenic and closely-linked polymorphisms at Xq22.1 in Fabry families whose specific alpha-Gal A lesions have not been determined.
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Bases de datos:
MEDLINE
Asunto principal:
Cromosoma X
/
Enfermedad de Fabry
/
Ligamiento Genético
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Am J Med Genet
Año:
1997
Tipo del documento:
Article
País de afiliación:
Estados Unidos