PMID- 18932076
OWN - NLM
STAT- MEDLINE
DCOM- 20090710
LR  - 20081020
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 32
IP  - 5
DP  - 2008
TI  - Molecular characterization of a beta-globin gene deletion of 1357 bp in a 
      Taiwanese beta-thalassemia carrier.
PG  - 498-504
LID - 10.1080/03630260802173528 [doi]
AB  - A 30-year-old male had hypochromic microcytosis and elevated Hb F and Hb A(2) 
      levels (MCV 72.5 fL, MCH 25.2 pg, Hb F 8.9% and Hb A(2) 6.6%). Direct DNA 
      sequencing of the entire beta-globin gene revealed no anomalies. Multiplex 
      ligation-dependent probe amplification (MLPA) showed reduced signals at probes 
      for the promoter, 5'UTR (5' untranslated region), exon 2 and intron 2 regions of 
      the beta-globin gene. Gap-polymerase chain reaction (gap-PCR) successfully 
      obtained junctional fragments. Direct sequencing of the gap-PCR product revealed 
      that the 5' breakpoint was located at -548 (relative to the Cap site of the 
      beta-globin gene) and the 3' breakpoint was located at +810 in the second intron 
      of the beta-globin gene. A total of 1357 bp were deleted 
      (NG_000007.3:g.69997_71353del1357). Similar to another two beta-globin gene 
      deletions reported in Black and Croatian thalassemia carriers, respectively, this 
      deletion was the result of a non homologous breakage and reunion event.
FAU - Huang, Chien-Hao
AU  - Huang CH
AD  - GenePhile BioScience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
FAU - Chang, Yih-Yuan
AU  - Chang YY
FAU - Chen, Chung-Hsiung
AU  - Chen CH
FAU - Ko, Tsang-Ming
AU  - Ko TM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (beta-Globins)
SB  - IM
MH  - Adult
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - *Gene Deletion
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Taiwan
MH  - beta-Globins/*genetics
MH  - beta-Thalassemia/*genetics
EDAT- 2008/10/22 09:00
MHDA- 2009/07/11 09:00
CRDT- 2008/10/22 09:00
PHST- 2008/10/22 09:00 [pubmed]
PHST- 2009/07/11 09:00 [medline]
PHST- 2008/10/22 09:00 [entrez]
AID - 904364098 [pii]
AID - 10.1080/03630260802173528 [doi]
PST - ppublish
SO  - Hemoglobin. 2008;32(5):498-504. doi: 10.1080/03630260802173528.