GM07857

GM07857 LCL from B-Lymphocyte

Description:

CYSTIC FIBROSIS; CF
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

Yes

Sex:

Female

Age:

14 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
GeT-RM Samples

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

Ethnicity

HUTTERITE

Family Member

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Two sibs also affected; consanguineous parents; mild disease; positive sweat test; Hutterite; donor subject is homozygous for a T-to-A transition at nucleotide 3434 (3434T>A) which converts the met-1101 codon (ATG) to a lys (AAG), resulting in a missense mutation in exon17b in the CFTR gene [MET1101LYS (M1101K)]

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: 2,2 1,1 1,3 1,2 1,2 2,2 1,1 2,2 Negative for F508, G551D, R553X, G542X, and N1303K mutations. The above results were kindly provided to the Repository by Dr. Arthur L. Beaudet, Baylor College of Medicine, Houston, TX. The F508 deletion result was confirmed by Dr. C. Goodpasture, VIVIGEN, Santa Fe, NM (personal communication). Zielenski et al (Am J Hum Genet 52:609-615,1993) reported that DNA from this subject with cystic fibrosis was homozygous for M1101K, a missense mutation in exon 17b of CFTR.

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

M1101K; CYSTIC FIBROSIS

Identified Mutation

MET1101LYS

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

M1101K; CYSTIC FIBROSIS

Identified Mutation

MET1101LYS

Phenotypic Data

Remarks

Publications

Pratt VM, Caggana M, Bridges C, Buller AM, Diantonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV, Development of genomic reference materials for cystic fibrosis genetic testing The Journal of molecular diagnostics : JMD11:186-93 2009

PubMed ID: 19359498

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

Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K, Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. Am J Hum Genet52:609-15 1993

PubMed ID: 7680525

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

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