Linkage of nonspecific X-linked mental retardation to Xq21.31

K. B. Jedele, V. V. Michels, Daniel J Schaid, K. V. Schowalter, Stephen N Thibodeau

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Mental retardation unassociated with the Fragile X syndrome accounts for up to 60% of patients with X-linked mental retardation. In this investigation, we report on a family with mild non-specific X-linked mental retardation (MRX) without other apparent phenotypic abnormalities. Linkage analysis on 27 relatives using 18 polymorphic markers spanning the X- chromosome demonstrated close linkage to DXYS1 with a peak LOD score of 2.14 at a θ of 0. Numerous families with various types of MRX have now been studied by other investigators using molecular genetic techniques. In addition to the family described in this report, a number of these have demonstrated linkage to the DXYS1 locus. These data suggest that a gene for mental retardation may exist in the region of DXYS1. Alternatively, this area of the X-chromosome may harbor multiple different but closely linked genes which cause the various types of MRX.

Original languageEnglish (US)
Pages (from-to)436-442
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume43
Issue number1-2
DOIs
StatePublished - 1992

Fingerprint

X-Linked Mental Retardation
X Chromosome
Intellectual Disability
Genetic Techniques
Fragile X Syndrome
Genes
Molecular Biology
Research Personnel
Atkin syndrome

Keywords

  • DXYS1
  • linkage
  • MRX
  • X-linked mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Linkage of nonspecific X-linked mental retardation to Xq21.31. / Jedele, K. B.; Michels, V. V.; Schaid, Daniel J; Schowalter, K. V.; Thibodeau, Stephen N.

In: American Journal of Medical Genetics, Vol. 43, No. 1-2, 1992, p. 436-442.

Research output: Contribution to journalArticle

Jedele, K. B. ; Michels, V. V. ; Schaid, Daniel J ; Schowalter, K. V. ; Thibodeau, Stephen N. / Linkage of nonspecific X-linked mental retardation to Xq21.31. In: American Journal of Medical Genetics. 1992 ; Vol. 43, No. 1-2. pp. 436-442.
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