Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain

Genetics and Molecular Biology

Yolanda De Diego¹  Abdelkrim Hmadcha¹  Francisco Moron¹  Miguel Lucas¹  Mercedes Carrasco¹  Elizabeth Pintado¹ 

[1],Universidad de Sevilla Facultad de Medicina y Hospital Universitario Virgen Macarena Departamento de Bioquímica Médica y Biología Molecular

关键词: mental retardation;    fragile X syndrome;    CGG repeats;    genetic screening;   

DOI  :  10.1590/S1415-47572002000100002

来源: SciELO

【 摘 要 】

Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain. We analyzed 322 unrelated patients (280 males and 42 females), and found a fragile X syndrome frequency of 6.5%. Among the non-fragile X chromosomes, the 29 CGG repeat was the most common allele. At the linked microsatellite DXS548 locus, we found a new allele which we called "allele 10" (17 CA). Similar to other south European populations, allele 2 (25 CA) at the DXS548 locus and the fragile X allele were in linkage disequilibrium supporting the idea of a common founder chromosome predisposing to the CGG expansion.

【 授权许可】

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