| Insert |
DNA: genomic Insert lengths(kb): 4.800000190734863 Tissue: liver Gene product: alpha-1-antitrypsin (protease inhibitor) [PI] Alleles: G3, A1, A2, B1, B2, D2, G1, G2, J2, N1, N2, C1, C2, D1, J1 |
| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI--7.0, 4.8; BamHI--10.6, 1.2; HindIII--4.2, 3.6, 3.5, 0.7; PvuII--6.5, 2.7, 1.75, 0.85; PstI--3.4, 3.4, 1.3, 0.8, 0.5. The insert contains 2 BamHI sites (upstream of exon 1) and 2 HindIII sites (in intron 1). IMPORTANT: To prevent amplification of a rearranged and/or deleted cosmid, we recommend streaking on LB + amp plates at 30C and picking small colonies for liquid culture. The insert is the genomic EcoRI fragment containing 5' flanking sequences, exon 1, and part of intron 1. |
| References |
Long GL, et al. Complete sequence of the cDNA for human alpha1-antitrypsin and the gene for the S variant. Biochemistry 23: 4828-4837, 1984. PubMed: 6093867
Sifers RN, et al. A frameshift mutation results in a truncated alpha1-antitrypsin that is retained within the rough endoplasmic reticulum. J. Biol. Chem. 263: 7330-7335, 1988. PubMed: 3259232
Cox DW, et al. DNA restriction fragments associated with alpha1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature 316: 79-81, 1985. PubMed: 2989709
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