Article
[Use of the polymerase chain reaction to detect beta-thalassemia mutations in heterozygous carriers from Azerbaijan while performing prenatal DNA-diagnosis].
Genetika - 1 May 1993
Surin V L, Tagiev A F, Solov'ev G Ia, Luk'ianenko A V, Plutalov O V, Berlin Iu A
Abstract excerpt
Prenatal DNA-diagnosis of beta-thalassemia in a family from Azerbaijan revealed two mutations new for this region--G-A transition at codon 15 and G-C transversion at position 5 of the intron 1. Prenatal diagnosis was carried out by direct sequencing of in vitro amplified (PCR) beta-globin gene fragments with a modified Sanger technique using thermostable DNA polymerase. The absence of parents mutations in the...
Topics
- Azerbaijan
- Base Sequence
- Codon
- Female
- Genetic Carrier Screening
- Genetic Markers
- Globins
- Humans
- Male
- Molecular Sequence Data
- Mutation