Linkage analysis in Spanish families with nonspecific X-linked mental retardation

Significant linkage at Xq13-q21

Celia Badenas, Sergi Castellv-Bel, Victor Volpini, Dolores Jimnez, Aurora Snchez, Xavier P. Estivill, Montserrat Mil

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Mental retardation (MR) is a genetically heterogeneous, clinically variable condition. Many cases of MR are linked to the X chromosome. The aim of this study was to identify candidate loci for nonspecific MR in Spanish samples. We selected seven families with nonspecific MR and a pattern of inheritance compatible with an X-linked disorder and a group of 26 sib pairs of mentally retarded individuals. We performed linkage analysis with a panel of 15 markers evenly distributed along the X chromosome. The study showed linkage to marker DXS8076, located in Xq21.1, by the lod score method (z = 2.11 at θ = 0.155) and the nonparametric extended relative pair analysis method (X2 = 5.32; P<0.03). Genetic heterogeneity was found, with an estimated 75% of the families linked at recombination fraction θ = 0.10 to the DXS8076 locus (X2 = 9.51; P < 0.009). Xq13-q21 is one of the critical regions for X-linked MR previously reported, and our study supports the idea that this region may contain a locus for MR in Spanish patients.

Original languageEnglish
Pages (from-to)343-347
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume98
Issue number4
DOIs
Publication statusPublished - 1 Feb 2001
Externally publishedYes

Fingerprint

Intellectual Disability
X Chromosome
X-Linked Mental Retardation
Lod Score
Inheritance Patterns
Genetic Heterogeneity
Mentally Disabled Persons
Genetic Recombination
Atkin syndrome

Keywords

  • Linkage analysis
  • Mental retardation
  • Nonspecific mental retardation
  • X chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Linkage analysis in Spanish families with nonspecific X-linked mental retardation : Significant linkage at Xq13-q21. / Badenas, Celia; Castellv-Bel, Sergi; Volpini, Victor; Jimnez, Dolores; Snchez, Aurora; Estivill, Xavier P.; Mil, Montserrat.

In: American Journal of Medical Genetics, Vol. 98, No. 4, 01.02.2001, p. 343-347.

Research output: Contribution to journalArticle

Badenas, Celia ; Castellv-Bel, Sergi ; Volpini, Victor ; Jimnez, Dolores ; Snchez, Aurora ; Estivill, Xavier P. ; Mil, Montserrat. / Linkage analysis in Spanish families with nonspecific X-linked mental retardation : Significant linkage at Xq13-q21. In: American Journal of Medical Genetics. 2001 ; Vol. 98, No. 4. pp. 343-347.
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