DNA polymorphisms of the human alpha 1 antitrypsin gene in normal subjects and in patients with pulmonary emphysema.
- 1 January 1987
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (1) , 47-51
- https://doi.org/10.1136/jmg.24.1.47
Abstract
Alpha1 antitrypsin deficiency predisposes subjects to developing pulmonary emphysema and childhood liver cirrhosis. We have studied restriction fragment length polymorphisms (RFLPs) of the .alpha.1 antitrypsin gene in a normal population and a group of patients with pulmonary emphysema. We have identified five RFLPs with eight restriction enzymes. The most frequent polymorphisms have been detected with the enzymes MspI, PstI, and TaqI at frequencies of 46.8%, 6.4% and 5.0%, respectively in the group of normal subjects.Keywords
This publication has 24 references indexed in Scilit:
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- DNA restriction fragments associated with α1-antitrypsin indicate a single origin for deficiency allele PI ZNature, 1985
- Phenotyping alpha-1-antitrypsin (α1AT) variants by isoelectric focusing in agarose and immunoblottingClinica Chimica Acta; International Journal of Clinical Chemistry, 1985
- Complete sequence of the cDNA for human .alpha.1-antitrypsin and the gene for the S variantBiochemistry, 1984
- The isolation of a clone for human α 1-antitrypsin and the detection of α 1-antitrypsin in mRNA from liver and leukocytesBiochemical and Biophysical Research Communications, 1983
- Sequence homology and structural comparison between the chromosomal human α1-antitrypsin and chicken ovalbumin genesNature, 1982
- DNA methylation and the frequency of CpG in animal DNANucleic Acids Research, 1980
- Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase IJournal of Molecular Biology, 1977
- A membrane-filter technique for the detection of complementary DNABiochemical and Biophysical Research Communications, 1966
- The Electrophoretic α;1-Globulin Pattern of Serum in α;1-Antitrypsin DeficiencyScandinavian Journal of Clinical and Laboratory Investigation, 1963