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Human CFTR gene sequences in regions flanking exon 10: a simple repeat sequence polymorphism in intron 9
1Cardiovascular Research Institute, University of California San Francisco 94143-0911, USA.
Biochemical and Biophysical Research Communications
|February 6, 1996
Summary
New sequencing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene revealed sequence discrepancies and identified a dimorphic repeat in intron 9. This repeat is linked to the delta508 mutation, aiding in genetic analysis.
Area of Science:
- Genetics
- Molecular Biology
Background:
- The cystic fibrosis transmembrane conductance regulator (CFTR) gene is crucial for chloride ion transport.
- Previous sequencing of CFTR exon 10 had limitations.
Purpose of the Study:
- To re-sequence a specific region of the human CFTR gene.
- To identify sequence variations and their potential impact on genetic analysis.
- To investigate a novel repeat sequence in intron 9.
Main Methods:
- DNA sequencing of a 2,908-bp genomic segment of the human CFTR gene.
- Polymerase chain reaction (PCR) amplification using newly designed primers.
- Analysis of a dimorphic (TAAA)n repeat sequence in intron 9.
Main Results:
- A 30-bp sequence discrepancy and three nucleotide insertions were identified compared to prior data.
- Primers based on the new sequence were essential for successful PCR amplification.
- A dimorphic (TAAA)n repeat (9 or 11 copies) was found in intron 9.
- The 11-repeat allele was exclusively associated with the delta508 mutation.
Conclusions:
- The identified sequence variations necessitate updated genetic analysis protocols for CFTR.
- The intron 9 (TAAA)n repeat polymorphism is a potential genetic marker.
- The association of the 11-repeat allele with delta508 mutation offers insights into CFTR genetic linkage.