Mutation Details for c.1766+1G>T
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cDNA Name
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c.1766+1G>T
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Exon or Intron
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intron 13
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Legacy Exon or Intron
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intron 12
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1898+1G->T
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Other Details
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This splice mutation is from a severely affected girl of Portugese/Chinese extraction. She is heterozygous for a G->T transversion in the conserved GT of the intron 12 splice donor site (1898 +1G->T). We have not yet defined the other allele. PCR primers used to amplify exon 12 were 12-j-5 (sense) 5'-TCATCTACACTAGATGACCAGGAA-3' and 12-j-3 (antisense) 5'-AGGTAAAATGCAATCTATGATGGG-3'. We found these to be better than 12i-5 and 12i-3. Allele specific oligonucleotides were used to detect the normal (5'-ATTTGAAAGGTATGTTCTT-3') and mutant (5'-ATTTGAAAGTTATGTTCTT-3') sequences of 1898+1G->T in our unaffected and CF patient populations. 1898+1G->T was only found in the patient, her affected sister and her mother (Chinese). This mutation is interesting in that it is the third of the three possible mutations to be described for this base; i.e. the 1898+1G and G-> have already been described.
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Contributors
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Morris P
1994-05-12
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Institute
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Adelaide Children's Hospital
North Adelaide, Australia
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Submitted Phenotype Details
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Reference
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Morris (NL #62)
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