Article
Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers.
Prenatal diagnosis - 1 Jun 2001
Apessos A, Abou-Sleiman P M, Harper J C, Delhanty J D
Abstract excerpt
Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)(n) repeat in the 5' untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal...
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