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Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

作者信息

MacDermot K D, Morgan S H, Cheshire J K, Wilson T M

机构信息

Division of Inherited Metabolic Diseases, Northwick Park Hospital, Harrow, Middlesex, UK.

出版信息

Hum Genet. 1987 Nov;77(3):263-6. doi: 10.1007/BF00284482.

DOI:10.1007/BF00284482
PMID:2890570
Abstract

Anderson Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. Hemizygous males and some heterozygous females develop renal failure and cardiovascular complications in early adult life. We have investigated six large UK families to assess the possible linkage of five polymorphic DNA probes to the Anderson Fabry locus, previously localised to Xq21-24. No recombination was found between Anderson Fabry disease and DXS87, DXS88 and DXS17, which gave lodmax = 6.4, 6.4 and 5.8 respectively at theta = 0.10, (upper confidence limit 0.10). DXS3 gave lodmax 2.9 at theta = 0.10 (upper confidence limit 0.25). DXYS1 was excluded from linkage. The best fit map (DXYS1/DXS3) theta = 0.192 (DXS17/DXS87/DXS88/Anderson Fabry locus) provided no information about the order of loci in parentheses due to the absence of recombinants. The close linkage of DXS17, DXS87 and DXS88, together with alpha-galactosidase A estimation, can be used for antenatal diagnosis and carrier detection until the application of a gene specific probe has been evaluated.

摘要

相似文献

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2
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引用本文的文献

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Novel trinucleotide deletion in Fabry's disease.
Hum Genet. 1996 Apr;97(4):468-70. doi: 10.1007/BF02267068.
2
Sequence variations in the first exon of alpha-galactosidase A.α-半乳糖苷酶A第一外显子的序列变异
J Med Genet. 1993 Aug;30(8):658-63. doi: 10.1136/jmg.30.8.658.
3
Physical mapping shows close linkage between the alpha-galactosidase A gene (GLA) and the DXS178 locus.
Hum Genet. 1993 Aug;92(1):95-9. doi: 10.1007/BF00216154.
4

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Anderson-Fabry disease.安德森-法布里病
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