| 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 |
602421.0006; CYSTIC FIBROSIS |
| Identified Mutation |
ARG347PRO; In a family identified as UT 1446, Dean et al. [Cell 61: 863-870 (1990)] found a C-to-G transversion at position 1172, resulting in substitution of proline for aspartic acid (R347P). The mutation destroyed an HhaI restriction site and created a NcoI site. |