Article
TGGE and HIEF: a comparison of two methods in the detection of carriers of the Z mutation in the alpha-1-antitrypsin gene.
Human genetics - 1 May 1994
Hinney A, Dürr C, Luckenbach C, Ritter H
Abstract excerpt
Alpha-1-antitrypsin (alpha-1-AT) deficiency can lead to juvenile liver cirrhosis and lung emphysema in adulthood. The deficiency Z allele is caused by a base transition. Temperature gradient gel electrophoresis (TGGE) and hybrid isoelectric focusing (HIEF) were used to detect carriers of the Z mutation of the alpha-1-AT gene. The resulting data were compared. To verify carriers at the sequence level, a manual...
Topics
- Alleles
- Base Sequence
- DNA Mutational Analysis
- DNA Primers
- Electrophoresis, Polyacrylamide Gel
- Genetic Carrier Screening
- Heterozygote
- Humans
- Isoelectric Focusing
- Molecular Sequence Data
- Mutation