Mutation Details for c.743+1G>C
|
|
cDNA Name
|
c.743+1G>C
|
|
Exon or Intron
|
intron 6
|
|
Legacy Exon or Intron
|
intron 6a
|
|
|
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)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
