Article
Molecular studies of the fragile X syndrome.
American journal of medical genetics - 1 Jan 2000
Knight S J, Hirst M C, Roche A, Christodoulou Z, Huson S M, Winter R, Fitchett M, McKinley M J, Lindenbaum R H, Nakahori Y
Abstract excerpt
We have studied families segregating for the fragile X syndrome for the presence of amplification of the CGG repeat sequence adjacent to the HpaII Tiny Fragment (HTF) island in the FMR-1 gene. We demonstrate that 138/143 fragile X positive, mentally retarded males show a characteristic smear of fragments corresponding to somatic variation in the amplification of the CGG sequence. In 7/8 normal transmitting males...
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