Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations

Genomics. 1992 May;13(1):211-2. doi: 10.1016/0888-7543(92)90223-f.

Abstract

The erythroid-specific (ALAS2) and housekeeping (ALAS1) genes encoding delta-aminolevulinate synthase have recently been mapped to chromosomes Xp21.1----q21 and 3p21, respectively. The erythroid-specific gene is a candidate for mutations resulting in X-linked sideroblastic anemia. Analysis of DNA from hybrid clones containing translocations in the region Xp11.21----Xq21.3 permitted the finer localization of the ALAS2 gene with respect to other loci and breakpoints within this region. These studies localized the ALAS2 gene to the distal subregion of Xp11.21 in Interval 5 indicating the following gene order: Xpter-OATL2-[L62-3A, Xp11.21; A62-1A-4b, Xp11.21]-(ALAS2, DXS323)-[B13-3, Xp11.21; C9-5, Xp11.21]-(DXS14, DXS429)-DXS422-(DXZ1, Xcen). Thus, the reported linkage of acquired sideroblastic anemia and sideroblastic anemia with ataxia to Xq13 presumably results from genes other than ALAS2.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 5-Aminolevulinate Synthetase / genetics*
  • Anemia, Sideroblastic / enzymology
  • Anemia, Sideroblastic / genetics
  • Base Sequence
  • Erythrocytes / enzymology*
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Translocation, Genetic / genetics*
  • X Chromosome*

Substances

  • 5-Aminolevulinate Synthetase