HM12785
High Molecular Weight DNA from B-Lymphocyte
Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Estimated Quantity |
5 µg - 20 µg |
| Product Specifications |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
High Molecular Weight DNA from B-Lymphocyte
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR |
The CFTR gene mutation data for this repository number was verified by sequencing. |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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 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 |
602421.0006; CYSTIC FIBROSIS |
| Identified Mutation |
ARG347PRO; In a family identified as UT 1446, Dean et al. [Cell 61: 863-870 (1990)] found a C-to-G transversion at position 1172, resulting in substitution of proline for aspartic acid (R347P). The mutation destroyed an HhaI restriction site and created a NcoI site. |
| |
| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 2 |
602421.0006; CYSTIC FIBROSIS |
| Identified Mutation |
ARG347PRO; In a family identified as UT 1446, Dean et al. [Cell 61: 863-870 (1990)] found a C-to-G transversion at position 1172, resulting in substitution of proline for aspartic acid (R347P). The mutation destroyed an HhaI restriction site and created a NcoI site. |
| Remarks |
Clinically affected; compound heterozygote; GLY551ASP (G551D)/ARG347PRO (R347P); analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T |
| Chou LS, Lyon E, Wittwer CT, A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol124(3):330-8 2005 |
| PubMed ID: 16191501 |
| |
| Hadd AG, Laosinchai-Wolf W, Novak CR, Badgett MR, Isgur LA, Goldrick M, Walkerpeach CR, Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms The Journal of molecular diagnostics : JMD6:348-55 2004 |
| PubMed ID: 15507674 |
| |
| Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT, Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clin Chem50(1):251-4 2004 |
| PubMed ID: 14709668 |
|
|