Abstract
Anderson-Fabry disease is an X-linked lysosomal storage disorder due to α-galctosidase A deficiency. In affected males there is a high mortality in early adult life due to renal failure and cardiovascular complications. We describe our preliminary results from genetic linkage studies in five families using two polymorphic DNA probes, DXS17 and DXYS1, mapping to an area on the long arm of the X chromosome between Xq13–22. DXS17 identified a Taql polymorphism closely linked to the disease locus in three families (lodmax Z=4.23. at a recombination fraction ↓ ⊝=0.0). Restriction fragment length polymorphisms detected by DXYS1 were not linked.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Anderson W (1898) A case of ‘angio-keratoma’. Br J Dermatol 10: 113–117
Fabry J (1898) Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis. Arch Dermatol Syphilol 43: 187–200
Desnick RJ, Sweeley CC (1983) Fabry's disease: α-galactosidase A deficiency. In: Stanbury JS, Wyngaarden JS, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited diseases. McGraw-Hill, New York, pp 906–944
Rietran PJGM, Brouwer-Kelder EM, De Groot WP, Tager JM (1976) The use of biochemical parameters for the detection of carriers of Fabry's disease. J Mol Med 1: 237–255
Brady RO, Uhlendorf BW, Jacobson CB (1971) Fabry's disease: antenatal detection. Science 172: 174–175
Desnick RJ, Raman MK, Bendel RP, Kersey J, Lee JC, Krivit W, Sharp HL (1973) Prenatal diagnosis of glycosphingopidoses: Sandhoff's (SD) and Fabry's diseases (FD). J Pediatr 83: 149–150
Gatti R, Lombardo C, Filocamo M, Borrone C, Porro E (1985) Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic cells. Prenat Diagn 5: 329–336
Fox MF, Dutoit DL, Warnich L, Retief AE (1984) Regional localisation of α-galactosidase (GLA) to Xpter-q22, hexosaminidase B (HEXB) to 5q13-qter and arylsulfatase B (ARSB) to 5pter-q13. Cytogenet Cell Genet 38: 45–49
Bishop DE, Calhoun DH, Bernstein HS, Hantzopoulos P, Quinn M, Desnick RJ (1986) Human alpha-glactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci USA 83: 4859–4863
Kint JA (1972) Fabry's disease: alpha-galactosidase deficiency. Science 167: 1268–1269
Kunkel LM, Smith KD, Boyer SH, Borgaonkar DG, Wachtel SS, Miller OJ, Breg R, Jones HW Jr, Rary JM (1977) Analysis of human Y-chromosome specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74: 1245–1249
Southern E (1975) Detection of specific sequences among DNA fragment by gel electrophoresis. J Mol Biol 98: 503–517
Human Gene Mapping 8, Helsinki (1985) Eighth International Workshop on Human Gene Mapping. Cytogenet Cell Genet 40
Rigby PWJ, Dieckmann M, Rhodes C, Berg P (1977) Labelling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase. J Mol Biol 113: 237–251
Ott J (1974) Estimation of the recombination fraction in human pedigrees. Am J Hum Genet 26: 588–597
Page DC, Harper ME, Love J, Bostein D (1984) Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature 311: 119–123
Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Desnick RJ (1986) Fabry disease: analysis of mutations in the human α-galactosidase A gene. Am J Hum Genet 39 [Suppl]: A118
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Morgan, S.H., Cheshire, J.K., Wilson, T.M. et al. Anderson-Fabry disease-family linkage studies using two polymorphic X-linked DNA probes. Pediatr Nephrol 1, 536–539 (1987). https://doi.org/10.1007/BF00849266
Issue Date:
DOI: https://doi.org/10.1007/BF00849266