| Insert |
DNA: genomic Insert lengths(kb): 6.5 Tissue: liver Gene product: alpha-1-antitrypsin-like [PI] Alleles: G3, A1, A2, B1, B2, D2, G1, G2, J2, N1, N2, C1, C2, D1, J1, A1, A2, D1, D2 |
| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI--10.9; HindIII--6.6, 2.7, 0.5; PvuII--4.6, 1.7, 1.7; BamHI--6.4, 4.4; AvaI--4.0, 2.8, 2.5, 0.9. This BamHI fragment starts close to the 5' end of exon 2 and continues through to 3' flanking sequences. |
| 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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