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Can I read Sequence variations of the ?-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE on EtoBox?
Sequence variations of the ?-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE by Giuseppina Lacerra; Mirella Fiorito; Gennaro Musollino; Francesca Di Noce; Maria Esposito; Vincenzo Nigro; Carlo Gaudiano; Clementina Carestia is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Sequence variations of the ?-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE about?
The alpha-globin chains are encoded by two duplicated genes (HBA2 and HBA1, 5'-3') showing overall sequence homology >96% and average CG content >60%. alpha-Thalassemia, the most prevalent worldwide autosomal recessive disorder, is a hereditary anemia caused by sequence variations of these genes in about 25% of carriers. We evaluated the overall sensitivity and suitability of DHPLC and DG-DGGE in scanning both the alpha-globin genes by carrying out a retrospective analysis of 19 variant alleles in 29 genotypes. The HBA2 alleles c.1A>G, c.79G>A, and c.281T>G, and the HBA1 allele c.475C>A were new. Three pathogenic sequence variations were associated in cis with nonpathogenic variations in all families studied; they were the HBA2 variation c.2T>C associated with c.-24C>G, and the HBA2 variations c.391G>C and c.427T>C, both associated with c.565G>A. We set up original experimental conditions for DHPLC and DG-DGGE and analyzed 10 normal subjects, 46 heterozygotes, seven homozygotes, seven compound heterozygotes, and six compound heterozygotes for a hybrid gene. Both the methodologies gave reproducible results and no false-positive was detected. DHPLC showed 100% sensitivity and DG-DGGE
Who reads Sequence variations of the ?-globin genes: Scanning of high CG content genes with DHPLC and DG-DGGE?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Giuseppina Lacerra; Mirella Fiorito; Gennaro Musollino; Francesca Di Noce; Maria Esposito; Vincenzo Nigro; Carlo Gaudiano; Clementina Carestia
- Publisher
- Hindawi Limited
- Published
- 2004
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)