PMID- 1734721
OWN - NLM
STAT- MEDLINE
DCOM- 19920304
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 50
IP  - 2
DP  - 1992 Feb
TI  - Molecular characterization of beta-thalassemia in the Sardinian population.
PG  - 422-6
AB  - 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 
      mutations which remained uncharacterized by this approach were defined by 
      denaturing gradient gel electrophoresis (DGGE) followed by direct sequence 
      analysis on amplified DNA. We 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 we 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. The results herein presented allowed an 
      expansion of the applicability of prenatal diagnosis by DNA analysis, to all 
      couples at risk for beta-thalassemia in our population.
FAU - Rosatelli, M C
AU  - Rosatelli MC
AD  - Istituto di Clinica e Biologia dell'Eta Evolutiva, Universita degli Studi 
      Cagliari, Italy.
FAU - Dozy, A
AU  - Dozy A
FAU - Faa, V
AU  - Faa V
FAU - Meloni, A
AU  - Meloni A
FAU - Sardu, R
AU  - Sardu R
FAU - Saba, L
AU  - Saba L
FAU - Kan, Y W
AU  - Kan YW
FAU - Cao, A
AU  - Cao A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Codon)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Base Sequence
MH  - Codon
MH  - DNA/genetics
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Frameshift Mutation
MH  - Heterozygote
MH  - Humans
MH  - Italy/epidemiology
MH  - Molecular Sequence Data
MH  - Polymerase Chain Reaction
MH  - Thalassemia/epidemiology/*genetics
PMC - PMC1682451
EDAT- 1992/02/01 00:00
MHDA- 1992/02/01 00:01
PMCR- 1992/08/01
CRDT- 1992/02/01 00:00
PHST- 1992/02/01 00:00 [pubmed]
PHST- 1992/02/01 00:01 [medline]
PHST- 1992/02/01 00:00 [entrez]
PHST- 1992/08/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1992 Feb;50(2):422-6.