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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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: 1,1 1,1 2,2 1,1 1,1 2,2 1,2 1,1 1,2 Homozygous for the F508 deletion mutation. The above results were kindly provided to the Repository by Dr. Arthur L. Beaudet, Baylor College of Medicine, Houston, TX. |
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GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive 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 |
602421.0001; 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). |