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.

Abstract

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, DXS146)-(DXS14, ALAS2, DXZ1)-AR-(DXS153, DXS159)-qter. No 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.

• Authors: T C Cox, H M Kozman, W H Raskind, B K May, J C Mulley
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 1 Issue 8 Pg. 639-41 (Nov 1992) ISSN: 0964-6906 [Print] England
• PMID: 1301172 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA, Single-Stranded
• Genetic Markers
• 5-Aminolevulinate Synthetase

Topics

• 5-Aminolevulinate Synthetase (genetics)
• Anemia, Sideroblastic (genetics)
• Base Sequence
• DNA, Single-Stranded
• Female
• Genetic Linkage
• Genetic Markers
• Humans
• Introns
• Male
• Molecular Sequence Data
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Genetic
• X Chromosome