Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
PROBE: metD metD metH metH XV-2c KM.19 pJ3.11 pJ3.11 JG ENZYME: BanI TaqI MspI TaqI TaqI PstI MspI TaqI PstI RESULTS: 1,2 1,2 2,2 1,1 1,2 2,2 1,2 1,2 2,2 The above results were kindly provided to the Repository by Dr Arthur L. Beaudet, Baylor College of Medicine, Houston, TX. Heterozygous for the F508 deletion mutation (C. Goodpasture, VIVIGEN, Santa Fe, NM, personal communication). |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0001; CYSTIC FIBROSIS |
| Identified Mutation |
PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508). |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0062; CYSTIC FIBROSIS |
| Identified Mutation |
IVS19DS, +10 KB, C>T (3849+10kbC>T); Referred to as 3849 + 10 kb C-to-T, this mutation in intron 19 is one of the 5 common mutations found in Ashkenazi Jewish patients with CF. The other four are delF508 (602421.0001), G542X (602421.0009), W1282X (602421.0022), and N1303K (602421.0032). |
| Remarks |
Three sibs are also affected; 1 allele has the F508 deletion mutation [PHE508DEL], a second allele carries the 3849+10kb,C>T mutation in intron 19 |
| Del Rey J1, Vidal F2,3,4, Ramírez L2, Borràs N2, Corrales I2, Garcia I2, Martinez-Pasarell O5, Fernandez SF6, Garcia-Cruz R6, Pujol A1,7, Plaja A1,8, Salaverria I1,9, Oliver-Bonet M1, Benet J1, Navarro J1., Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure. PLoS One13: 2018 |
| PubMed ID: 30332465 |
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| Naylor SL, Barnett DR, Buchanan JM, Latimer J, Wieder K, Marshall S, Gardner J, Denning CR, Gluckson M, Pinero R, et al, Linkage of cystic fibrosis locus and polymorphic DNA markers in 14 families. Am J Hum Genet39:707-12 1986 |
| PubMed ID: 3026173 |
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| Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL, Linkage of DNA markers to cystic fibrosis in 26 families. Am J Hum Genet39:729-34 1986 |
| PubMed ID: 2879439 |
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