Article
Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.
Genetic testing and molecular biomarkers - 1 Feb 2012
Indhumathi Nagarathinam, Singh Deepika, Chong Samuel S, Thelma B K, Arabandi Ramesh, Srisailpathy C R Srikumari
Abstract excerpt
Fragile X syndrome is the most frequent hereditary cause of mental retardation after Down syndrome. Expansion of CGG repeats in the 5' UTR of the fragile X mental retardation gene 1 (FMR1) causes gene inactivation in most of the cases. The FMR1 gene is classified into normal 5-44; gray zone 45-54; premutation 55 to <200; and full mutation ≥ 00 repeats. Precise sizing of FMR1 alleles is important to understand...
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