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Fragility in the 14q21q translocation region Genet. Mol. Biol.
Denison,Stacy R.; Multani,Asha S.; Pathak,Sen; Greenbaum,Ira F..
Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q). Fluorescence in situ hybridization (FISH) analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation region. Per-individual analysis of metaphases from APC-treated peripheral blood lymphocyte cultures identified significantly nonrandom chromosomal breakage at the translocation region in all three individuals examined. The APC-inducible fragility at the 14q21q translocation region suggests that this rearrangement was the result of chromosomal mutation at fragile site(s) in the progenitor chromosomes,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Rob(14q21q); Robertsonian translocation; Fragile sites; Aphidicolin; Heritability.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300003
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Molecular approach of the fragile chromosomal region Xq31-34 in cattle (Bos taurus) by microdissection and DOP-PCR Arq. Bras. Med. Vet. Zootec.
Llambí,S.; Arruga,M.V..
Fragile sites (FS) are chromosomal regions where the normal compactation of chromatine is not observed. FRAXA (Fra Xq27.3, X sexual chromosome) is one of the most studied FS in humans. FRAXA is an expansion of the trinucleotide CGG located in the gene FMR-1. In cattle, sites of chromosomal fragility were reported in BTAX, associated with different pathologies and fertility impairment. Chromosomal microdissection has became a valuable tool for isolating chromatine fragments. In this work, it was combined the chromosomal microdissection technique with DOP-PCR in order to carry out a molecular analysis of the fragile chromosomal region BTAXq31-34. In that region, polymorphic DNA-RAPD sequences (GC rich) are present and sequences of the gene FMR-1 are missing....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Cattle; Fragile sites; DOP-PCR; Microdissection; X sexual chromosome.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352008000400023
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