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

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.