New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval

Am J Med Genet. 1991 Feb-Mar;38(2-3):336-42. doi: 10.1002/ajmg.1320380234.

Abstract

Recently some of us cloned a new probe RN1 (DXS369), which appears a close marker for the fragile X locus (FRAXA) [Oostra et al.: Genomics 1990]. We present here new evidence for its physical and genetic mapping in the DXS98--FRAXA interval. We used 2 different somatic cell hybrid lines with breakpoints in the Xq27-q28 region: L10B Rea and PeCHN, and we established the order: (DXS105, DXS98)-L10B Rea-DXS369-PeCHN- (DXS304, DXS52). We detected an additional TaqI RFLP at the DXS369 locus which increases its informativeness up to 57%. Two point linkage analysis in a large set of families gave high lod scores for the FRAXA-DXS369 linkage (z(theta) = 10.1 at theta = 0.044) and for DXS369-DXS304, a marker distal to FRAXA (z = 19.2 at theta = 0.070). By multipoint analyses we established the localization of DXS369 in the DXS98-FRAXA interval. DXS369 is a much closer proximal marker for FRAXA than DXS105 or DXS98 and any new probe mapping between the breakpoints in L10B Rea and PeCHN will be of potential interest as a marker for FRAXA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Chromosome Mapping
  • Cricetinae
  • Cricetulus
  • DNA Probes / genetics
  • Deoxyribonucleases, Type II Site-Specific
  • Female
  • Genetic Markers
  • Humans
  • Hybrid Cells
  • Lod Score
  • Male
  • Menopause, Premature / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length*
  • Prohibitins
  • Translocation, Genetic*
  • X Chromosome / ultrastructure*
  • Y Chromosome / ultrastructure*

Substances

  • DNA Probes
  • Genetic Markers
  • PHB2 protein, human
  • Prohibitins
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases