Scanning method to identify the molecular heterogeneity of δ-globin gene especially in δ-thalassemias: Detection of three novel substitutions in the promoter region of the gene

Human Mutation

Volumn 9, Issue 5, 1997, Pages 465-472

  Papadakis, Manoussos ^a   Papapanagiotou, Elisavet ^a   Loutradi Anagnostou, Afrodite ^a  

^a LAIKO GENERAL HOSPITAL   (Greece)

Author keywords

globin gene; globin mutations; DGGE; promoter mutations

Indexed keywords

DELTA GLOBIN; DNA FRAGMENT; HEMOGLOBIN A2;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA DETERMINATION; DNA POLYMORPHISM; EXON; GENE MUTATION; GENETIC HETEROGENEITY; HEMOGLOBIN DETERMINATION; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; THALASSEMIA;

ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENETIC HETEROGENEITY; GLOBINS; HETEROZYGOTE DETECTION; HUMANS; MUTATION; PROMOTER REGIONS (GENETICS); THALASSEMIA;

EID: 0030948047     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:5<465::AID-HUMU14>3.0.CO;2-0     Document Type: Article

References (6)

1. Baysal E, Career MFH (1995) The β- and δ-thalassemia repository, 8th edition. Hemoglobin 19:213-236.
2. Carver MFH, Kutlar A (1995) International Hemoglobin Information Center Variant List. Hemoglobin 19:37-149.
3. 2-Etolia] Hum Mutat 9:344-347.
4. Fodde R, Losekoot M (1994) Mutation detection by denaturing gradient gel electrophoresis (DGGE). Hum Mutat 3:83-94.
5. Olds R, Sura T, Jackson B, Wonke B, Hoffbrand A, Thein S (1991) A novel δ° mutation in cis with Hb Knossos: A study of different genetic interactions in three Egyptian families. Br J Haematol 78:430-436.
6. 2- Agrinio [δ43(CD2)Glu→Gly (GAG→GGG)]: A new δ chain variant detected in a Greek family. Hemoglobin 19:295-299.