Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes

Genomics. 1993 May;16(2):305-10. doi: 10.1006/geno.1993.1189.

Abstract

Anhidrotic ectodermal dysplasia (EDA), an X-chromosomal recessive disorder, is expressed in a few females with chromosomal translocations involving bands Xq12-q13. Using available DNA markers from the region and somatic cell hybrids we mapped the X-chromosomal breakpoints in two such translocations. The breakpoints were further mapped within a yeast artificial chromosome contig constructed by chromosome walking techniques. Genomic DNA markers that map between the two translocation breakpoints were recovered representing putative portions of the EDA gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosomes, Fungal
  • Chromosomes, Human, Pair 1 / ultrastructure
  • Chromosomes, Human, Pair 9 / ultrastructure
  • Ectodermal Dysplasia / genetics*
  • Female
  • Gene Library
  • Genes*
  • Genetic Markers
  • Genome, Human
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Restriction Mapping
  • Translocation, Genetic
  • X Chromosome / ultrastructure

Substances

  • Genetic Markers