| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI--19.5, 9.8, 4.4, 3.3, 2.1; HindIII--19.0, 7.0, 5.8, 3.4, 2.1; BamHI--17.0, 6.8, 3.8, 5.4, 3.1, 2.6; PstI--11.0, 6.6, 5.4, 3.3, 2.9, 2.3, 2.0, 1.7, 1.25; SalI--39.0. This insert contains 5' flanking sequences, exons 1-5, introns 1-4, and part of intron 5. There are 5 EcoRI sites (1 in the 5' flanking sequences, 2 in intron 1, and 1 in intron 2) in the insert. Exon 2 is contained in a 250 bp EcoRI fragment. There are 3 BamHI (5' flanking, exon 1, intron 1) and 6 HindIII (2 in 5' flanking, 2 in intron 1, 1 in intron 2, 1 in intron 4) sites in the insert. One intron was missed in the mapping described in the Nucleic Acids Research paper. A partial sequence of a mutant PNP gene has been described. |
| References |
Williams SR, et al. Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization. Nucleic Acids Res. 12: 5779-5787, 1984. PubMed: 6087295
Williams SR, et al. A human purine nucleoside phosphorylase deficiency caused by a single base change. J. Biol. Chem. 262: 2332-2338, 1987. PubMed: 3029074
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