1999
DOI: 10.1590/s1415-47571999000200005
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Abstract: We have developed a non-isotopic technique based on methylation-specific PCR (MSP) of the FMR1 promoter for the identification of fragile X full mutations among men. DNA samples were first treated with sodium bisulfite to convert unmethylated, but not methylated, cytosines to uracil, followed by PCR amplification with oligonucleotide primers specific for methylated versus unmethylated DNA. We designed two primer pairs: one produced a 142-bp fragment from the bisulfite-treated methylated CpG island, while the o… Show more

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Cited by 3 publications
(2 citation statements)
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References 9 publications
(15 reference statements)
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“…Molecular study detects gene mutations by amplification of DNA fragments by Polymerase Chain Reaction (PCR) (Fu et al 1991, Heitz et al 1992, Haddad et al 1996, Pena and Sturzeneker 1999 and quickly identifies carriers of gene FMR1 full mutation. Haddad et al (1996) described a protocol in which FRAXA males, carriers of gene FMR1 full mutation, are identified by lack of amplification of mutated alleles.…”
mentioning
confidence: 99%
“…Molecular study detects gene mutations by amplification of DNA fragments by Polymerase Chain Reaction (PCR) (Fu et al 1991, Heitz et al 1992, Haddad et al 1996, Pena and Sturzeneker 1999 and quickly identifies carriers of gene FMR1 full mutation. Haddad et al (1996) described a protocol in which FRAXA males, carriers of gene FMR1 full mutation, are identified by lack of amplification of mutated alleles.…”
mentioning
confidence: 99%
“…We wish to briefly describe a novel, simple, and highly sensitive molecular test based on methylation‐specific PCR (MSP) of the human X‐linked FMR‐1 gene, which can replace with enormous advantage the morphological Barr body analysis. The MSP test is done exactly as we described elsewhere for the diagnosis of Fragile X syndrome (Pena and Sturzeneker, 1999). Accordingly, DNA samples are first treated with sodium bisulfite to convert unmethylated, but not methylated, cytosines to uracil, followed by PCR amplification with oligonucleotide primers specific for methylated versus unmethylated DNA (Herman et al, 1996).…”
mentioning
confidence: 99%