HUMAN CFTR GENE-SEQUENCES IN REGIONS FLANKING EXON-10 - A SIMPLE REPEAT SEQUENCE POLYMORPHISM IN INTRON-9

A 2908-bp segment of genomic DNA containing exon 10 and flanking intro n regions of the human cystic fibrosis transmembrane conductance regul ator gene was sequenced. A 30-bp sequence discrepancy and three missin g nucleotides were detected when compared to a previously published 83 1-bp sequence. In the 30-bp region of sequence discrepancy, only a pri mer based on the new sequence information presented in this study gave products from polymerase chain reaction amplification of cellular DNA and a plasmid DNA encompassing the exon 10 region of CFTR. A 4-bp (TA AA) simple repeat sequence was also identified in intron 9 region. Thi s repeat is dimorphic with nine (TAAA)(9) or eleven (TAAA)(11) copies on different chromosomes. Eleven repeats were exclusively associated w ith chromosomes carrying the Delta F508 mutation. Both 9 and 11 repeat s were detected in non-Delta F5O8 chromosomes. (C) 1996 Academic Press , Inc.