scholarly journals β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39C→T/−28A→C

2009 ◽  
Vol 2009 ◽  
pp. 1-3 ◽  
Author(s):  
Soledad Gamarra ◽  
Guillermo Garcia-Effron ◽  
Carmen Monteserin ◽  
Isabel Lopez-Villar ◽  
Florinda Gilsanz ◽  
...  
Keyword(s):  
Male Patient ◽  
Globin Gene ◽  
Gene Mutations ◽  
Gene Promoter ◽  
Tata Box ◽  
Spanish Population ◽  
Compound Heterozygosity ◽  
Thalassaemia Major ◽  
Spanish Patient ◽  
First Report

A Spanish male patient withβ-thalassaemia major was studied. Compound heterozygosity was found for one of the most commonβ-globin gene mutations in the Spanish population (codon 39C→T) and for a mutation in the TATA box element of theβ-globin gene promoter (−28 A→Cmutation). To our knowledge this is the first report of a CD39C→Tand−28 A→Cchange association and the first report of the−28 A→Csubstitution in a Spanish patient.

β-thalassemia intermedia due to compound heterozygosity for two β-globin gene promoter mutations, including a novel TATA box deletion

2007 ◽  
Vol 50 (2) ◽  
pp. 363-366 ◽  
Author(s):  
Raveen K. Basran ◽  
Ulrike M. Reiss ◽  
Hong-yuan Luo ◽  
Russell E. Ware ◽  
David H.K. Chui
Keyword(s):  
Globin Gene ◽  
Gene Promoter ◽  
Tata Box ◽  
Compound Heterozygosity ◽  
Thalassemia Intermedia ◽  
Promoter Mutations

First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations

2014 ◽  
Vol 37 (2) ◽  
pp. 238-243 ◽  
Author(s):  
S. Alkindi ◽  
S. AlZadjali ◽  
S. Daar ◽  
R. Ambusaidi ◽  
D. Gravell ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Novel Mutations ◽  
First Report

scholarly journals Structural and Functional Cross-Talk between a Distant Enhancer and the ɛ-Globin Gene Promoter Shows Interdependence of the Two Elements in Chromatin

1999 ◽  
Vol 19 (11) ◽  
pp. 7600-7609 ◽  
Author(s):  
Jennifer C. McDowell ◽  
Ann Dean
Keyword(s):  
Globin Gene ◽  
Gene Promoter ◽  
Transcription Activation ◽  
Tata Box ◽  
Globin Genes ◽  
Hypersensitive Site ◽  
Nuclease Digestion ◽  
Dnase I Hypersensitive Site ◽  
Globin Promoter ◽  
Gata Motif

ABSTRACT We investigated the requirements for enhancer-promoter communication by using the human β-globin locus control region (LCR) DNase I-hypersensitive site 2 (HS2) enhancer and the ɛ-globin gene in chromatinized minichromosomes in erythroid cells. Activation of globin genes during development is accompanied by localized alterations of chromatin structure, and CACCC binding factors and GATA-1, which interact with both globin promoters and the LCR, are believed to be critical for globin gene transcription activation. We found that an HS2 element mutated in its GATA motif failed to remodel the ɛ-globin promoter or activate transcription yet HS2 nuclease accessibility did not change. Accessibility and transcription were reduced at promoters with mutated GATA-1 or CACCC sites. Strikingly, these mutations also resulted in reduced accessibility at HS2. In the absence of a globin gene, HS2 is similarly resistant to nuclease digestion. In contrast to observations in Saccharomyces cerevisiae, HS2-dependent promoter remodeling was diminished when we mutated the TATA box, crippling transcription. This mutation also reduced HS2 accessibility. The results indicate that the ɛ-globin promoter and HS2 interact both structurally and functionally and that both upstream activators and the basal transcription apparatus contribute to the interaction. Further, at least in this instance, transcription activation and promoter remodeling by a distant enhancer are not separable.

Molecular characterization of β-globin gene mutations in Malay patients with Hb E-β-thalassaemia and thalassaemia major

1989 ◽  
Vol 72 (1) ◽  
pp. 73-80 ◽  
Author(s):  
K. G. Yang ◽  
F. Kutlar ◽  
E. George ◽  
J. B. Wilson ◽  
A. Kutlar ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Globin Gene ◽  
Gene Mutations ◽  
Thalassaemia Major ◽  
Hb E

Effect of TATA Box polymorphisms in human β-globin gene promoter associated with β-thalassemia on interaction with TATA-binding protein

2011 ◽  
Vol 1 (3) ◽  
pp. 183-188 ◽  
Author(s):  
I. A. Drachkova ◽  
T. V. Arshinova ◽  
P. M. Ponomarenko ◽  
T. I. Merkulova ◽  
N. A. Kolchanov ◽  
...  
Keyword(s):  
Binding Protein ◽  
Globin Gene ◽  
Gene Promoter ◽  
Tata Binding Protein ◽  
Tata Box

scholarly journals Nuclear factor I (NF I) binds to an NF I-type site but not to the CCAAT site in the human alpha-globin gene promoter.

1992 ◽  
Vol 267 (12) ◽  
pp. 8478-8484 ◽  
Author(s):  
H Zorbas ◽  
T Rein ◽  
A Krause ◽  
K Hoffmann ◽  
E.L. Winnacker
Keyword(s):  
Globin Gene ◽  
Gene Promoter ◽  
Nuclear Factor ◽  
Factor I ◽  
Alpha Globin ◽  
Nuclear Factor I ◽  
Type Site

scholarly journals Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xi Luo ◽  
Xiang-mei Zhang ◽  
Liu-song Wu ◽  
Jindong Chen ◽  
Yan Chen
Keyword(s):  
Genetic Counseling ◽  
Peripheral Blood ◽  
Clinical Phenotype ◽  
Globin Gene ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Guizhou Province ◽  
Globin Genes ◽  
Phenotype Correlation ◽  
Chi Square

Abstract Background α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-globin triplication and the genotype–phenotype correlation in this subpopulation Methods A cohort of 7644 subjects was selected from nine ethnicities covering four regions in Guizhou province of China. Peripheral blood was collected from each participant for routine blood testing and hemoglobin electrophoresis. PCR-DNA sequencing and Gap-PCR were used to identify the thalassemia gene mutations. Chi-square tests and one-way analysis of variance (ANOVA) were used to statistically analyze the data. Results We found that the frequency of α-globin triplication in Guizhou province was 0.772% (59/7644). Genotypically, the αααanti4.2/αα accounted for 0.523% (40/7644), the αααanti3.7/αα for 0.235% (18/7644), and the αααanti3.7/–SEA for 0.013% (1/7644). The αααanti4.2/αα is more prevalent than the αααanti3.7/αα in Guizhou. In addition, the frequency of the HKαα/αα (that by GAP-PCR is like αααanti4.2/-α3.7) was 0.235% (18/7644). Ethnically, the Tujia group presented the highest prevalence (2.47%) of α-globin triplication. Geographically, the highest frequency of the α-globin triplication was identified in Qiannan region (2.23%). Of the triplicated α-globin cases, 5 coinherited with heterozygote β-thalassemia and presented various clinical manifestations of anemia. Conclusions These data will be used to update the Chinese triplicated α-globin thalassemia database and provide insights into the pathogenesis of thalassemia. These findings will be helpful for the diagnosis of thalassemia and future genetic counseling in those regions.

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