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International Journal of Hematology-Oncology and Stem Cell Research، جلد ۲، شماره ۳، صفحات ۳۰-۳۴
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عنوان انگلیسی β-Globin Gene Cluster Haplotypes in Iranian Patients with β-Thalassemia
چکیده انگلیسی مقاله Introduction: β-globin gene cluster haplotypes are useful in diagnosis of particular molecular defects in β-thalassemia, prenatal diagnosis of β-thalassemia, and elucidating population affinities. Methods: β-globin gene cluster haplotypes were studied in 150 β-thalassemia minor and 52 healthy in-dividuals from the Fars province of Iran. DNA was extracted from leukocytes of whole blood by phe-nol-chloroform. Haplotype was determined by PCR-RFLP technique. } Results: There were 26 out of 150 with homozygous haplotypes. Haplotype I was found as the most prevalent haplotype among both patients and normal individuals. Out of 26 patients bearing homozy-gous haplotypes, 12 (46.2%) had typical haplotype I and 3 (11.5%) had atypical haplotype I. The prevalence of haplotype I in normal control subjects was around 43% (45 out of 104 βA chromo-somes). The second prevalent haplotype was haplotypes V (15.4%) and III (15.4%) for homozygous patients and controls, respectively. The most frequent mutation in patients was IVS II.1 (G→A) that was not linked to a single haplotype. IVS I.110 (G→A) mutation was linked to haplotype I. Mutation in codon 30 (G→A) was associated with haplotype V. Conclusion: Being Haplotype I the most prevalent haplotype in β-thal and βA chromosomes, implies that β-thalassemia mutations might have arisen in the chromosomal background common in the popula-tion, rather than due to selection pressure or gene flow (migration). Patients with haplotype IX had the highest HbF levels compared to other haplotypes.
کلیدواژه‌های انگلیسی مقاله β-globin gene,haplotypes
نویسندگان مقاله z رحیمی | z rahimi
medical biology research center, kermanshah university of medical sciences, kermanshah, iran. biochemistry department, medical school, kermanshah university of medical sciences, kermanshah, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی کرمانشاه (Kermanshah university of medical sciences)

a مرآت | a merat
biochemistry department, medical school, shiraz university of medical sciences, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

m اخضری | m akhzari
biochemistry department, medical school, shiraz university of medical sciences, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

m haghshenass | m haghshenass
hematology research center, shiraz university of medical sciences, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

nagel رونالد l | nagel ronald l
department of medicine, division of hematology; department of physiology and biophysics, albert einstein college of medicine, bronx, ny, usa


gerard ناتالی | gerard nathalie
nserm u763, hôpital robert debrè, paris, france


krish namoorthy rajagopal | krish namoorthy rajagopal
nserm u763, hôpital robert debrè, paris, france
نشانی اینترنتی http://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/198
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