Description:
CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
HUMAN GENE MUTATION PANEL - CYSTIC FIBROSIS (VERSION 2)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Pharmacogenetics |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17029 [CYSTIC FIBROSIS; CF] |
| 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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Asiatic Indian
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Ethnicity
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PAKISTANI
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR |
The CFTR gene mutation data for this repository number was verified by sequencing. |
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| Gene |
CFTR |
| Chromosomal Location |
7q31.2 |
| Allelic Variant 1 |
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). |
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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 |
Clinically affected; homozygous for 3849 +10kb,C>T mutation; 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; Pakistani; mild pulmonary disease with pancreatic exocrine sufficiency and normal sweat chloride; donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 [Arg144Cys (R144C)] |
| Bleasby K, Hall LA, Perry JL, Mohrenweiser HW, Pritchard JB, Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6) The Journal of pharmacology and experimental therapeutics314:923-31 2005 |
| PubMed ID: 15914676 |
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| Millikan RC, Hummer A, Begg C, Player J, de Cotret AR, Winkel S, Mohrenweiser H, Thomas N, Armstrong B, Kricker A, Marrett LD, Gruber SB, Culver HA, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Busam K, From L, Mujumdar U, Berwick M, Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the Genes Environment and Melanoma Study Carcinogenesis27:610-8 2005 |
| PubMed ID: 16258177 |
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| 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 |
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| 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 |
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