Mutation Details for c.743+1G>C

cDNA Name c.743+1G>C 
Exon or Intron intron 6 
Legacy Exon or Intron intron 6a 
Legacy Name 875+1G->C 
Other Details This splice mutation was detected by SSCP analysis of DNA amplified by PCR using the following primers:6ai-5s; 5'-GGAAGATACAATGACACCTG-3' and 6ai-3s; 5'CTGGTTTTACTAAAGTGGGC-3' (271bp PCR product). The G to C transversion at position 875+1 changed the invariant G of the donor splice site of intron 6a. The mutation can be analyzed by enzymatic digestion since the G875+1->C creates a new restriction site (AluI). AluI digestion of 385 bp PCR-amplified segment (primers: 6ai-5; 5'TTAGTGTGCTCAGAACCACG-3') and 6ai-3; 5'-CTATGCATAGACCAGTCCTG-3') corresponding to the mutant allele generates three restriction fragments: 39 bp, 89 bp and 257 bp (normal allele; 39 bp and 346 bp). The mutation has been found once among 192 CF chromosomes. Mutation on the other chromosome of the CF patient is [delta]F508. 
Contributors Zielinski J, Markiewicz D, Tsui LC   1993-10-02
Institute Hospital For Sick Children Toronto, Canada 
Submitted Phenotype Details The mutation was found in 2 heterezygous (siblings) , one male and one female, both PS, with moderate lung disease and sweat chloride >60 mmol/l. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#58) 

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The Database was last updated at Apr 25, 2011