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| Pereira,Rinaldo W.; Sturzeneker,Rosane; Pena,Sérgio D.J.. |
| To screen for monosomy X in spontaneous fetal losses we explored a simple molecular strategy based on loss of heterozygosity at highly polymorphic X-linked loci. We developed a multiplex fluorescent procedure that allows the simultaneous amplification of five dinucleotide repeat polymorphisms in a large low-recombination region in the long arm of the X chromosome. Analysis was performed by computer-assisted laser densitometry. We did not find any instances of homozygosity at all five loci in 30 normal females tested, nor among 37 women whose typing data were retrieved from the Fondation Jean Dausset - CEPH genotype database. In addition, all cases of monosomy X previously diagnosed by conventional cytogenetics presented the anticipated loss of... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000100002 |
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| Pena,Sérgio D.J.; Sturzeneker,Rosane. |
| 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 other generated an 84-bp product from the treated non-methylated promoter. In normal males only the 84-bp fragment was seen, while the diagnosis of FRAXA was doubly indicated by the appearance of a 142-bp product together with absence or weak... |
| Tipo: Info:eu-repo/semantics/other |
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| Ano: 1999 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000200005 |
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