Molecular studies of the fragile X syndrome.

Journal article

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 (NTM's), we show that there is a small amplification of sequence but no evidence ...

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Authors: Knight, S; Hirst, M; Roche, A; Christodoulou, Z; Huson, S

• Journal: American journal of medical genetics
• Volume: 43
• Issue: 1-2
• Pages: 217-223
• Publication date: 1992-01-01
• DOI: 10.1002/ajmg.1320430135
• EISSN: 1096-8628
• ISSN: 0148-7299
• Language: English
• Keywords: Male; Pedigree; Humans; Molecular Biology; Repetitive Sequences, Nucleic Acid; Gene Amplification; Heterozygote Detection; Fragile X Syndrome; Phenotype; Female; Genotype; DNA Mutational Analysis