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NUMBER

HS_CA_MT_UU_G_D_Y_0242

DEFINITION

Cystic fibrosis transmembrane conductance regulator CFTR, exon 12

REFERENCE

Slomski, R., Schloesser, M., Berg, L.P., Wagner, M., Kakkar, V.V., Cooper, D.N., and Reiss, J., Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts. Hum Genet, 1992. 89: p. 615-9.

EXPRESSION

exon skipped in epithelial cells and lymphocytes of some patients

REGULATORY FEATURES

exon part of the nucleotide binding fold

TEMPORAL REGULATION

nd

TECHNIQUE

PCR

ACCESSION

M55117

SOURCE

genomic DNA

5' SCORE

10.05

3' SCORE

10.30

ACCEPTOR SITE

TTTTCTTTTTAG

EXON SEQUENCE

2 agcagtatac aaagatgctg atttgtattt attagactct ccttttggat acctagatgt tttaacagaa aaagaaatat ttgaaag

DONOR SITE

GTATGT

5' EXON

1 gacatctcca agtttgcaga gaaagacaat atagttcttg gagaaggtgg aatcacactg agtggaggtc aacgagcaag aatttcttta gcaag

3' EXON

2 ctgtgtctgt aaactgatgg ctaacaaaac taggattttg gtcacttcta aaatggaaca tttaaagaaa gctgacaaaa tattaatttt gaatgaaggt agcagctatt tttatgggac attttcagaa ctccaaaatc tacagccaga ctttagctca aaactcatgg gatgtgattc tttcgaccaa tttagtgcag aaagaagaaa ttcaatccta actgagacct tacaccgttt ctcattagaa ggagatgctc ctgtctcctg gacagaaaca aaaaaacaat cttttaaaca gactggagag tttggggaaa aaaggaagaa ttctattctc aatccaatca actctatacg aaaattttcc attgtgcaaa agactccctt acaaatgaat ggcatcgaag aggattctga tgagccttta gagagaaggc tgtccttagt accagattct gagcagggag aggcgatact gcctcgcatc agcgtgatca gcactggccc cacgcttcag gcacgaagga ggcagtctgt cctgaacctg atgacacact cagttaacca aggtcagaac attcaccgaa agacaacagc atccacacga aaagtgtcac tggcccctca ggcaaacttg actgaactgg atatatattc aagaaggtta tctcaagaaa ctggcttgga aataagtgaa gaaattaacg aagaagactt aaag

DISEASE

exon missing in some CF patients

COMMENTS

complete gene structure determined, Zielenski, J., Rozmahel, R., Bozon, D., Kerem, B., Grzelczak, Z., Riordan, J.R., Rommens, J., and Tsui, L.C., Genomics 10, 214-228 (1991)

REVISION

This comment is added on 970314 ;; item 16 was modified by M28668