Cystic fibrosis transmembrane conductance regulator gene mutations
First Claim
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1. An isolated nucleic acid of about 26 kb or less, comprising a CFTR gene intron 10 to intron 6a junction region, wherein at least twelve nucleotides directly adjoining the 5′
- -side of the junction arc at least 90% identical to intron 10 of the CFTR gene and at least twelve nucleotides directly adjoining the 3′
-side of the junction are at least 90% identical to intron 6a of the CFTR gene.
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Abstract
The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. The mutations include duplication of exons including duplication of exons 6b through 10. Methods of identifying if an individual contains the exons 6b through 10 duplication are provided as well as nucleic acid fragments that contain the junction site of the duplicated segment. The detection of additional mutations in the CFTR gene are also provided.
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Citations
12 Claims
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1. An isolated nucleic acid of about 26 kb or less, comprising a CFTR gene intron 10 to intron 6a junction region, wherein at least twelve nucleotides directly adjoining the 5′
- -side of the junction arc at least 90% identical to intron 10 of the CFTR gene and at least twelve nucleotides directly adjoining the 3′
-side of the junction are at least 90% identical to intron 6a of the CFTR gene. - View Dependent Claims (2, 3, 4, 9, 10)
- -side of the junction arc at least 90% identical to intron 10 of the CFTR gene and at least twelve nucleotides directly adjoining the 3′
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5. An isolated nucleic acid of about 26 kb or less comprising:
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a) a CFTR gene intron 10 to intron 6a junction region, wherein at least twelve nucleotides directly adjoining the 5′
-side of the junction are at least 90% identical to intron 10 of the CFTR gene and at least twelve nucleotides directly adjoining the 3′
-side of the junction are at least 90% identical to intron 6a of the CFTR gene, andb) at least a portion of exon 10 or exon 6b of the CFTR gene. - View Dependent Claims (6, 7, 8, 11, 12)
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Specification