Molecular characterization of beta-thalassemia in the Sardinian population
- University of California, San Franciso (United States)
- Instituto di Ricerca sulle Talassemie e Anemie Mediterranee CNR, Cagilari (Italy)
This study reports the molecular characterization of [beta]-thalassemia in the Sardinian population. Three thousand [beta]-thalassemia chromosomes from prospective parents presenting at the genetic service were initially analyzed by dot blot analysis with oligonucleotide probes complementary to the most common [beta]-thalassemia mutations in the Mediterranean at-risk populations. The mutation which remained uncharacterized by this approach were defined by denaturing gradient gel electrophoresis (DGGE) followed by direct sequence analysis on amplified DNA. The authors reconfirmed that the predominant mutation in the Sardinian population is the codon 39 nonsense mutation, which accounts for 95.7% of the [beta]-thalassemia chromosomes. The other two relatively common mutations are frameshifts at codon 6 (2.1%) and at codon 76 (0.7%), relatively uncommon in other Mediterranean-origin populations. In this study they have detected a novel [beta]-thalassemia mutation, i.e., a frameshift at codon 1, in three [beta]-thalassemia chromosomes. The DGGE procedure followed by direct sequencing on amplified DNA is a powerful approach for the characterization of unknown mutations in this genetic system.
- OSTI ID:
- 6969247
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 50:2; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
59 BASIC BIOLOGICAL SCIENCES
ANEMIAS
CODONS
DEVELOPED COUNTRIES
DISEASES
DNA HYBRIDIZATION
EUROPE
GENE MUTATIONS
HEMIC DISEASES
HUMAN POPULATIONS
HYBRIDIZATION
ITALY
MEDITERRANEAN SEA
MOLECULAR BIOLOGY
MUTATIONS
POPULATIONS
RISK ASSESSMENT
SEAS
SURFACE WATERS
SYMPTOMS
THALASSEMIA