Mutation Details for c.3873+1G>A
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cDNA Name
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c.3873+1G>A
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Exon or Intron
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intron 23
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Legacy Exon or Intron
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intron 20
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4005+1G->A
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Other Details
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The mutation was observed on two CF chromosomes (B haplotypes of Celtic origin) among 87 chromosomes tested through DGGE and DNA sequencing. The G->A nucleotide change destroys a HpnI site leading to the following pattern on digestion on the PCR product from the mutated allele (405bp +68 bp). The two affected children are compound heterozygotes. The first is 22 years old, PI with cirrhosis. He carries the [delta]F508 on the other chromosome. It is a severe form of the disease. The second child is 6 years old, PI, the other chromosome carries an unidentified mutation.
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Contributors
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Ferec C,
Quere I,
Guillermit H,
Verlingue V
1991-06-26
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Phenotype Information
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CFTR2
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Reference
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Férec et al. 1992
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