GM04540

GM04540 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Male

Age:

10 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Abnormal sweat electrolytes; minimal cough & congestion; mild pulmonary symptomatology; little or no stool proteolytic enzyme activity; similarly affected sib; homozygous for 3 bp F508 deletion mutation [PHE508DEL]; see GM04541 Fibroblast

Characterizations

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

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 2,2 1,2 1,2 2,2 HOMOZYGOUS FOR 3 BASE PAIR DELETION (508) MUTATION. The above results were kindly provided to the Repository by Dr. Arthur L. Beaudet, Baylor College Of Medicine, Houston, TX. The F508 deletion results were confirmed by Dr. C. Goodpasture, VIVIGEN, Santa Fe, NM (personal communication).

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.

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).

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).

Phenotypic Data

Remarks

Publications

Moutou C, Gardes N, Viville S, Duplex, triplex and quadruplex PCR for the preimplantation genetic diagnosis (PGD) of cystic fibrosis (CF), an exhaustive approach Prenatal diagnosis24:562-9 2004

PubMed ID: 15300750

Moutou C, Rongieres C, Bettahar-Lebugle K, Gardes N, Philippe C, Viville S, Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. Hum Reprod18(3):509-14 2003

PubMed ID: 12615816

Jenison R, La H, Haeberli A, Ostroff R, Polisky B, Silicon-based biosensors for rapid detection of protein or nucleic acid targets. Clin Chem47(10):1894-900 2001

PubMed ID: 11568116

Dunbar SA, Jacobson JW, Application of the luminex LabMAP in rapid screening for mutations in the cystic fibrosis transmembrane conductance regulator gene: A pilot study. Clin Chem46(9):1498-500 2000

PubMed ID: 10973900

Nagasawa T, Nakajima T, Tachibana K, Iizasa H, Bleul CC, Yoshie O, Matsushima K, Yoshida N, Springer TA, Kishimoto T, Molecular cloning and characterization of a murine pre-B-cell growth-stimulating factor/stromal cell-derived factor 1 receptor, a murine homolog of the human immunodeficiency virus 1 entry coreceptor fusin. Proc Natl Acad Sci U S A93:14726-9 1996

PubMed ID: 8962122

Perry-O'Keefe H, Yao XW, Coull JM, Fuchs M, Egholm M, Peptide nucleic acid pre-gel hybridization: an alternative to southern hybridization. Proc Natl Acad Sci U S A93:14670-5 1996

PubMed ID: 8962112

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