PRENATAL-DIAGNOSIS OF ALPHA-1-ANTITRYPSIN DEFICIENCY USING POLYMERASE CHAIN-REACTION (PCR) - COMPARISON OF CONVENTIONAL RFLP METHODS WITH PCR USED IN COMBINATION WITH ALLELE SPECIFIC OLIGONUCLEOTIDES OR RFLP ANALYSIS
- 1 December 1989
- journal article
- research article
- Vol. 36 (6) , 419-426
Abstract
Prenatal diagnosis of alpha1-antitrypsin (AAT) deficiency can be performed in the 1st trimester of pregnancy. These diagnoses have been based on DNA technology using either RFLP analysis or hybridization with allele specific oligonucleotides. Several RFLPs within and flanking the AAT gene have been found to render most families informative. The polymerase chain reaction allows specific DNA sequences to be amplified up to ten million fold. Both sequences containing a specific mutation or an RFLP can be amplified by this method. We have compared conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis, in a case of prenatal diagnosis of AAT deficiency of the ZZ type.This publication has 10 references indexed in Scilit:
- Prenatal diagnosis of alpha-1-antitrypsin deficiency using oligonucleotide probe analysisHuman Genetics, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Diagnosis of α1antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction productsNucleic Acids Research, 1988
- An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA SequencesNew England Journal of Medicine, 1987
- Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease.Journal of Medical Genetics, 1987
- PRENATAL DIAGNOSIS OF α1-ANTITRYPSIN DEFICIENCY BY RESTRICTION FRAGMENT LENGTH POLYMORPHISMS, AND COMPARISON WITH OLIGONUCLEOTIDE PROBE ANALYSISThe Lancet, 1986
- Risk of Cirrhosis and Primary Liver Cancer in Alpha1-Antitrypsin DeficiencyNew England Journal of Medicine, 1986
- A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locusHuman Genetics, 1985
- Complete sequence of the cDNA for human .alpha.1-antitrypsin and the gene for the S variantBiochemistry, 1984
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1983