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© 1992 Oxford University Press

OTHER

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia

Timothy C. Cox, Helen M. Kozman1, Wendy H. Raskind2, Brian K. May* and John C. Mulley1

Department of Biochemistry, University of Adelaide Adelaide 1Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital North Aaelaide, South Australia, Australia 2Department of Medicine, University of Washington School of Medicine Seattle, WA, USA

*To whom corrspondence should be addressed at: Department of Biochemistry, University of Adelaide, GPO Box 498, Adelaide 5001, South Australia, Australia

Received July 21, 1992; Revised September 17, 1992; Accepted September 17, 1992

We have identified a compound dinucleotide repeat within intron 7 of the human erythroid 5-aminolevulinate synthase (ALAS2) gene with a minimum of 9 alleles and heterozygosity of 78%. ALAS2 was placed on the multipoint linkage map of the X chromosome in the pericentromeric region with the locus order: pter-(DXS255, TFE3, DXSI46)-(DXS14, ALAS2, DXZI)-AR-(DXSI53, DXS159)-qter. Nó recombination was observed between ALAS2 and the centromere marker DXZ1. As ALAS2 has recently been shown to be the defective locus in X-linked pyridoxine-responsive sideroblastic anemia (PRSA), the ALAS2 marker has allowed placement of the gene for PRSA into the multipoint linkage map of the X chromosome. With the previous exclusion of close linkage between DXS14 and sideroblastic anemia with ataxia, our data show that there are at least two loci for X-linked sideroblastic anemia.


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