X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.

Abstract:

:Molecular linkage analysis was performed on a kindred with X-linked sideroblastic anemia and ataxia. Two-point analysis with a DNA probe for phosphoglycerate kinase (PGK1), which maps to Xq13, suggested linkage to the disorder by a lod score of at least 2.60 at a recombination fraction of zero. The disease in this kindred appears to be clinically and genetically distinct from that in previously reported families with X-linked hereditary ataxia or spastic paraparesis. No mapping data are available for inherited X-linked sideroblastic anemia without neurologic abnormalities. However, structural alterations of band Xq13 may be involved in the development of idiopathic acquired sideroblastic anemia. No alterations in the restriction patterns of two X-linked genes involved in erythrocyte formation-i.e., a DNA-binding protein (GF-1) and 5-aminolevulinate synthase (ALAS)-were detected in DNA from affected males, arguing against a large deletion in either of these candidate genes.

journal_name

Am J Hum Genet

authors

Raskind WH,Wijsman E,Pagon RA,Cox TC,Bawden MJ,May BK,Bird TD

subject

Has Abstract

pub_date

1991-02-01 00:00:00

pages

335-41

issue

2

eissn

0002-9297

issn

1537-6605

journal_volume

48

pub_type

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