| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| CYSTIC FIBROSIS GENE: RFLP HAPLOTYPES & MUTATION STUDIES |
Heterozygous for the F508 deletion mutation (C. Goodpasture, VIVIGEN, Santa Fe, NM, personal communication). |
| |
| 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 |
602421.0022; CYSTIC FIBROSIS |
| Identified Mutation |
TRP1282TER; A G-to-A substitution at nucleotide 3978 is responsible for the trp1282-to-ter change [Vidaud et al. Hum. Genet. 85: 446-449 (1990)]. |