Rapid and simple diagnosis of the two common α1-proteinase inhibitor deficiency alleles Pi*z and Pi*s by DNA analysis

European Journal of Clinical Chemistry and Clinical Biochemistry

Volumn 34, Issue 9, 1996, Pages 761-764

  Braun, Andreas ^a,c   Meyer, Peter ^b   Cleve, Hartwig ^a   Roscher, Adelbert A ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c NONE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA; RESTRICTION ENDONUCLEASE;

AGAR GEL ELECTROPHORESIS; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; BLOOD; CONTROLLED STUDY; DNA DETERMINATION; HUMAN; HUMAN CELL; MASS SCREENING; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SERUM;

ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, AGAR GEL; HUMANS; MOLECULAR SEQUENCE DATA; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 0029773635     PISSN: 09394974     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Crystal Rg. Alpha-1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies of therapy. J Clin Invest 1990; 85:1343-52.
2. Schroeder WT, Miller MF, Woo SLC, Saunders GF. Chromosomal localization of the human alpha-1-antitrypsin gene (Pi) to 14q31-32. Am J Hum Genet 1985; 37:868-72.
3. Crystal RG. The alpha-1-antitrypsin gene and its deficiency states. Trends Genet 1989; 5:411-7.
4. Faber JP, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Bidlingmaier S, Olek K. Identification and DNA sequence analysis of 15 new alpha-1-antitrypsin variants, including two Pi Q alleles and one deficient Pi M allele. Am J Hum Genet 1994; 55:1113-21.
5. Nukiwa T, Satoh K, Brantly ML, Ogushi F, Fells GA, Courtney M, Crystal RG. Identification of a second mutation in the protein-coding sequence of the Z type alpha-1-antitrypsin gene. J Biol Chem 1986; 261:15989-94.
6. Long GL, Chandra T, Woo SLC, Davie EW, Kurachi L. Complete sequence of the cDNA for human alpha-1-antitrypsin and the gene for the S-variant. Biochemistry 1984; 23:4828-37.
7. Hejtmancik JF, Sifers RN, Ward PA, Harris S, Mansfield T, Cox DW. Prenatal diagnosis of alpha-1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis. Lancet 1986; 2:767-70.
8. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucl Acids Res 1989; 17:2503-16.
9. Samiotaki M, Kwiatkowski M, Parik J, Landegren U. Dualcolor detection of DNA sequence variants by ligase-mediated analysis. Genomics 1994; 20:238-42.
10. Dubel JR, Finwick R, Hejtmancik JK. Denaturing gradient gel electrophoresis of the alpha-1-antitrypsin gene: application to prenatal diagnosis. Am J Hum Genet 1991; 41:39-43.
11. Dry PJ. Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced Taql restriction site. Hum Genet 1991; 87:742-4.
12. Tazelaar JP, Friedmann KJ, Kline RS, Guthrie ML, Faber RA. Detection of alpha-1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis. ClinChem 1992; 38:1486-8.
13. Andresen BS, Nudsen I, Jensen PKA, Rasmussen K, Gregersen N. Two novel nonradioactive polymerase chain reaction-based assays of dried blood spots, genomic DNA, or while cells for fast, reliable detection of Z and S mutations in the alpha-1antitrypsin gene. Clin Chem 1992; 38:2100-7.
14. Braun A, Bichlmaier R, Cleve H. Molecular analysis of the gene for the human vitamin D binding protein (group-specific component): the allelic differences of the common genetic GC types. Hum Genet 1992; 89:401-6.
15. Kurachi K, Chandra T, DegenSJF, White TT, Marchioro TL, Woo SLC, Davie EW. Cloning and sequence of cDNA coding for alpha-1-antitrypsin. Proc Nat Acad Sei USA 1981; 78:6826-30.
16. Braun A, Müller B, Röscher AA. Population study of the G1691A (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C. Hum Genet 1996; 97:263-4.
17. Dallinga-Thie GM, van Linde-Sibenius Trip M, Kock LAW, De Bruin TWA. Apolipoprotein E2/E3/E4 genotyping with agarose gels. Clin Chem 1995; 41:73-5.