Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
Braz. j. med. biol. res
;
41(2): 95-98, Feb. 2008. ilus, tab
Article
in English
| LILACS
| ID: lil-474771
ABSTRACT
The fetal hemoglobin (HbF) levels and betaS-globin gene haplotypes of 125 sickle cell anemia patients from Brazil were investigated. We sequenced the Gg- and Ag-globin gene promoters and the DNase I-2 hypersensitive sites in the locus control regions (HS2-LCR) of patients with HbF level disparities as compared to their ßS haplotypes. Sixty-four (51.2 percent) patients had CAR/Ben genotype; 36 (28.8 percent) Ben/Ben; 18 (14.4 percent) CAR/CAR; 2 (1.6 percent) CAR/Atypical; 2 (1.6 percent) Ben/Cam; 1 (0.8 percent) CAR/Cam; 1 (0.8 percent) CAR/Arab-Indian, and 1 (0.8 percent) Sen/Atypical. The HS2-LCR sequence analyses demonstrated a c.-10.677G>A change in patients with the Ben haplotype and high HbF levels. The Gg gene promoter sequence analyses showed a c.-157T>C substitution shared by all patients, and a c.-222_-225del related to the Cam haplotype. These results identify new polymorphisms in the HS2-LCR and Gg-globin gene promoter. Further studies are required to determine the correlation between HbF synthesis and the clinical profile of sickle cell anemia patients.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Globins
/
Locus Control Region
/
Deoxyribonuclease I
/
Anemia, Sickle Cell
Limits:
Adult
/
Child
/
Child, preschool
/
Humans
Language:
English
Journal:
Braz. j. med. biol. res
Journal subject:
Biology
/
Medicine
Year:
2008
Type:
Article
/
Project document
Affiliation country:
Brazil
Institution/Affiliation country:
FIOCRUZ/BR
/
Fundação de Hematologia e Hemoterapia da Bahia/BR
/
Universidade Federal da Bahia/BR
Similar
MEDLINE
...
LILACS
LIS