Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
Cystic fibrosis gene alleles are G551D & F508: Gly>Asp at amino acid 551 (G>A at nucleotide 1784 in exon 11) & deletion of Phe at amino acid 508 in exon 10. |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
602421.0013; CYSTIC FIBROSIS |
| Identified Mutation |
GLY551ASP; A G-to-A change in nucleotide 1784 in exon 11 is responsible for substitution of aspartic acid for glycine at amino acid 551 (G551D) [Cutting et al., New. Eng. J. Med. 323: 1685-1689 (1990)]. |
| |
| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0001; CYSTIC FIBROSIS |
| Identified Mutation |
PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508). |
| Remarks |
GLY551ASP (G551D)/F508 [PHE508DEL]; Gly>Asp at amino acid 551 (G>A at nucleotide 1784 in exon 11)/deletion of Phe at amino acid 508 in exon 10 |
| Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr, A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein [see comments] Nature346:366-9 1990 |
| PubMed ID: 1695717 |
| |
| Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC, Identification of the cystic fibrosis gene: genetic analysis. Science245:1073-80 1989 |
| PubMed ID: 2570460 |
|
|