FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions

Hum Mol Genet. 1993 Feb;2(2):183-9. doi: 10.1093/hmg/2.2.183.

Abstract

We have established a probe order within the Angelman/Prader-Willi chromosomal regions by multicolor fluorescence in situ hybridization (FISH). The probe [locus] order extending distally from the centromere is 34[D15S9]-IR4-3R[D15S11]-189-1[D15S13]-PW71++ + [D15S63]-3-21[D15S10]-28 beta 3-H3[GABRB3]-IR10-1 [D15S12]. This order agrees with that recently reported (1) with the exception of PW71 [D15S63]. In addition, a second gamma-aminobutyric acid (GABAA) receptor, the alpha 5 subunit, has been localized within the reference map to between GABRB3 and D15S12. The locus order was further confirmed by DNA hybridization analysis of two patients, one with Angelman syndrome and one with Prader-Willi syndrome, with different unbalanced translocations and molecular extents of deletion. Our results provide a framework map of chromosome 15q11-q13 into which additional markers can be oriented and allow a further differentiation of the critical genetic regions of the two syndromes.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Angelman Syndrome / genetics*
  • Base Sequence
  • Chromosome Deletion
  • Chromosome Mapping / methods*
  • Chromosomes, Human, Pair 15*
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Molecular Sequence Data
  • Prader-Willi Syndrome / genetics*
  • Receptors, GABA-A / genetics*
  • Translocation, Genetic

Substances

  • Genetic Markers
  • Receptors, GABA-A