Mutation analysis of hBUB1, hBUBR1 and hBUB3 genes

作者： Jun Masuoka , Hiroko Ohgaki , Takao Watanabe , Rui M. Reis , Stefano Colella

DOI:

关键词: Missense mutation 、 Silent mutation 、 Biology 、 Mutation 、 Coding region 、 Genetics 、 Point mutation 、 Molecular biology 、 Giant-cell glioblastoma 、 Start codon 、 Mitotic spindle checkpoint

摘要: Glioblastomas, the most malignant human brain tumors, are characterized by marked aneuploidy, suggest- ing chromosomal instability which may be caused a defective mitotic spindle checkpoint. We screened 22 glioblastomas for mutations in check- point genes hBUB1, hBUBR1 and hBUB3. DNA sequenc- revealed silent mutation at codon 144 of hBUB1 (CAG→ CAA, Gln→ Gln) one glioblastoma, 952 (GAC→ GAT, Asp→ Asp) another 388 gene (GCG→ GCA, Ala→ Ala) 8 glioblastomas. also observed known polymor- phism 349 (CAA/CGA, Gln/Arg), with an allelic frequency 0.75 Gln 0.25 Arg, is similar to that among healthy Caucasian individ- uals (0.73 vs 0.27). The coding sequence hBUB3 did not contain any mutation, but 4 (18%), C→ T was detected position -6 (6 nucleotides upstream ATG initiator codon). Analysis blood these patients showed identical alterations, indicating this phism. Again, Caucasians (15%). further 18 cases giant cell variant predominance bizarre, multinucle- ated cells. There were no changes, except two cases. These results suggest checkpoint do play significant role causation chromo- somal

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Mutation analysis of hBUB1, hBUBR1 and hBUB3 genes

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Mutation analysis of hBUB1, hBUBR1 and hBUB3 genes

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