PMID- 32672086
OWN - NLM
STAT- MEDLINE
DCOM- 20210713
LR  - 20210713
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 44
IP  - 4
DP  - 2020 Jul
TI  - Two Novel and Five Rare Mutations in the Non Coding Regions of the beta-Globin Gene 
      in the Iranian Population.
PG  - 225-230
LID - 10.1080/03630269.2020.1790384 [doi]
AB  - beta-Thalassemia (beta-thal) is one of the most frequent genetic disorder in Iran with 
      great mutational diversity. In this study, we describe two novel and five rare 
      mutations in the non coding regions of the beta-globin gene; these mutations were 
      identified in the non coding regions of the beta-globin gene (HBB) in the 
      heterozygous state. Three alterations were detected in the promoter region, 
      including -9 (C>G) [HBB: c.59C>G (novel mutation)], -54 (G>A) (HBB: c.-104G>A) 
      and -57 (A>T) (HBB: c.-107A>T), three changes in the 5' untranslated region 
      (5'UTR) including +11 (C>G) [HBB: c.-40C>G (novel mutation)], +41 (A>T) (HBB: 
      c.-10A>T) and +43 (C>G) (HBB: c.-8C>G) and one mutation in the 3'UTR 62 (A>G) 
      (HBB: c.*62A>G). Five mutations including -54, -57, +41, +11 and +43 were 
      predicted to be deleterious in all except one in silico prediction tool, and the 
      remaining two mutations were found to be most likely polymorphisms. In 
      conclusion, two novel mutations were reported for the first time worldwide and 
      five rare changes have not been reported previously in any other part of Iran. In 
      the absence of further data, it is not possible to consider them as mutations 
      that determine an ascertained healthy carrier state.
FAU - Hamid, Mohammad
AU  - Hamid M
AD  - Department of Molecular Medicine, Biotechnology Research Center, Pasteur 
      Institute of Iran, Tehran, Iran.
FAU - Zargan Nezhad, Ebtesam
AU  - Zargan Nezhad E
AD  - Department of Medical Genetics, School of Medicine, Tehran University of Medical 
      Sciences, Tehran, Iran.
FAU - Keikhaei, Bijan
AU  - Keikhaei B
AD  - Research Center for Thalassemia and Hemoglobinopathy, Health Institute, Ahvaz 
      Jundishapur University of Medical Sciences, Ahvaz, Iran.
FAU - Galehdari, Hamid
AU  - Galehdari H
AD  - Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, 
      Ahvaz, Iran.
FAU - Saberi, Alihossein
AU  - Saberi A
AD  - Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, 
      Ahvaz, Iran.
FAU - Sedaghat, Alireza
AU  - Sedaghat A
AD  - Department of Endocrinology, Ahvaz Jundishapur University of Medical Sciences, 
      Ahvaz, Iran.
FAU - Mohammadi-Anaei, Marziye
AU  - Mohammadi-Anaei M
AD  - Narges Medical Genetics Laboratory, Kianpars, Ahvaz, Iran.
FAU - Shariati, Gholamreza
AU  - Shariati G
AD  - Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, 
      Ahvaz, Iran.
AD  - Narges Medical Genetics Laboratory, Kianpars, Ahvaz, Iran.
LA  - eng
PT  - Journal Article
DEP - 20200716
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (Untranslated Regions)
RN  - 0 (beta-Globins)
SB  - IM
MH  - Alleles
MH  - DNA Mutational Analysis
MH  - Female
MH  - Gene Frequency
MH  - Genotype
MH  - Hemoglobinopathies/diagnosis/*epidemiology/*genetics
MH  - Humans
MH  - Iran/epidemiology
MH  - Male
MH  - *Mutation
MH  - Population Surveillance
MH  - Sequence Analysis, DNA
MH  - *Untranslated Regions
MH  - beta-Globins/*genetics
OTO - NOTNLM
OT  - Iran
OT  - novel mutations
OT  - beta-Thalassemia (beta-thal)
EDAT- 2020/07/17 06:00
MHDA- 2021/07/14 06:00
CRDT- 2020/07/17 06:00
PHST- 2020/07/17 06:00 [pubmed]
PHST- 2021/07/14 06:00 [medline]
PHST- 2020/07/17 06:00 [entrez]
AID - 10.1080/03630269.2020.1790384 [doi]
PST - ppublish
SO  - Hemoglobin. 2020 Jul;44(4):225-230. doi: 10.1080/03630269.2020.1790384. Epub 2020 
      Jul 16.