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Non-syndromic autosomal recessive mental retardation in Tunisian families: exclusion of GRIK2 and TUSC3 genes
Tunisie Medicale [La]. 2011; 89 (5): 479-484
en Inglés | IMEMR | ID: emr-133355
ABSTRACT
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]. Genetic analysis of NSAR-MR the GRIK2 gene [6q16.3-q21] and the TUSC3 gene [8p22]. 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 [V400beta]. Genotyping and linkage analysis excluded linkage of the GRIK2 gene and TUSC3 gene. Our results confirm the extreme genetic heterogeneity of NSAR-MR
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Índice: IMEMR (Mediterraneo Oriental) Idioma: Inglés Revista: Tunisie Med. Año: 2011

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Índice: IMEMR (Mediterraneo Oriental) Idioma: Inglés Revista: Tunisie Med. Año: 2011