Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus

N. J. Carpenter, Stephen N Thibodeau, W. T. Brown

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

We report on linkage data between DXS105, DXS98, the locus for the fragile X syndrome (FRAXA), and 3 other polymorphic loci that flank the FRAXA locus. An analysis was undertaken to determine the relative positions of DXS105 and DXS98 and to test the assignment of DXS105 to a location proximal and closely linked to FRAXA. In this study of fragile X fra(X) syndrome families, the DXS105 locus was calculated to be proximal to FRAXA with a maximum lod score of 10.36 at Θ = 0.08. DXS105 was also shown to be closely linked to the gene for factor IX (F9)(Z = 11.84 at Θ = 0.08) and to DXS98 (Z = 4.91 at Θ = 0.04). The order of the loci proximal to FRAXA is most likely centromere-factor IX-DXS105-DXS98-FRAXA-telomere. The use of DXS105 and DXS98 in clinical investigations should significantly increase the accuracy of risk assessment in informative fragile X families.

Original languageEnglish (US)
Pages (from-to)349-353
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume38
Issue number2-3
DOIs
StatePublished - 1991
Externally publishedYes

Fingerprint

Fragile X Syndrome
Factor IX
Genetic Markers
Lod Score
Centromere
Information Storage and Retrieval
Telomere
Genes

Keywords

  • factor IX
  • FRAXA
  • risk assessment

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus. / Carpenter, N. J.; Thibodeau, Stephen N; Brown, W. T.

In: American Journal of Medical Genetics, Vol. 38, No. 2-3, 1991, p. 349-353.

Research output: Contribution to journalArticle

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