PMID- 1301930
OWN - NLM
STAT- MEDLINE
DCOM- 19930610
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 1
IP  - 3
DP  - 1992
TI  - A comprehensive scanning method for rapid detection of beta-globin gene mutations 
      and polymorphisms.
PG  - 229-39
AB  - We describe a scanning procedure for the detection of beta-globin gene mutations 
      and the prenatal diagnosis of beta-thalassemias. The method is based on the 
      combined use of PCR and denaturing gradient gel electrophoresis (DGGE) of six 
      amplified fragments encompassing the whole beta-globin coding region and splice 
      junctions, as well as the promoter and 3' untranslated regions. The whole 
      beta-globin gene can be rapidly scanned for the presence of deleterious 
      mutations. The proposed diagnostic strategy provides a major improvement over 
      current approaches to beta-globin gene analysis in both research and clinical 
      laboratories, especially those which analyse DNA samples from individuals 
      belonging to various ethnic or population groups. The use of this procedure has 
      enabled us to detect six novel sequence changes in the beta-globin gene, 
      including two deleterious mutations and four polymorphisms.
FAU - Ghanem, N
AU  - Ghanem N
AD  - Laboratoire de Genetique Moleculaire, INSERM U91, CHU Henri Mondor, Creteil, 
      France.
FAU - Girodon, E
AU  - Girodon E
FAU - Vidaud, M
AU  - Vidaud M
FAU - Martin, J
AU  - Martin J
FAU - Fanen, P
AU  - Fanen P
FAU - Plassa, F
AU  - Plassa F
FAU - Goossens, M
AU  - Goossens M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA Probes)
RN  - 9004-22-2 (Globins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Base Sequence
MH  - DNA/genetics
MH  - DNA Mutational Analysis/methods
MH  - DNA Probes
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Female
MH  - *Genetic Techniques
MH  - Globins/*genetics
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Genetic
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - beta-Thalassemia/diagnosis/genetics
EDAT- 1992/01/01 00:00
MHDA- 1992/01/01 00:01
CRDT- 1992/01/01 00:00
PHST- 1992/01/01 00:00 [pubmed]
PHST- 1992/01/01 00:01 [medline]
PHST- 1992/01/01 00:00 [entrez]
AID - 10.1002/humu.1380010310 [doi]
PST - ppublish
SO  - Hum Mutat. 1992;1(3):229-39. doi: 10.1002/humu.1380010310.