Non-syndromic Autosomal Recessive Mental Retardation in Tunisian families : Exclusion of GRIK2 and TUSC3 genes

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Published May 9, 2011
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Vol. 89 No. 5 (2011): Issue May 2011

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Oussama Mhamdi
Maher Kharrat
Ridha Mrad
Faouzi Maazoul
Habiba Chaabouni Bouhamed

Abstract

Background: Mental retardation is one of the most frequent major handicap, with a 1-3 % frequency in the general population, it appear a major problem of public health. The recent progress of molecular biology and cytogenetic allowed to identify new genes for non syndromic autosomal recessive mental retardation (NSAR-MR).
Aim: Genetic analysis of NSAR-MR: the GRIK2 gene (6q16.3-q21) and the TUSC3 gene (8p22).
Methods: Four Tunisian families with NSAR-MR were included in this study. Genotyping was made using polymorphic microsatellite markers and statistical analysis was validated using the Fast Link programme of the Easy linkage software (V4:00beta).
Results: Genotyping and linkage analysis excluded linkage of the GRIK2 gene and TUSC3 gene.
Conclusion: Our results confirm the extreme genetic heterogeneity of NSAR-MR.

Keywords:

NSAR-MR, Linkage analysis, Genotyping, Haplotypes, Genetic heterogeneity

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