Relationship of the Interaction Between Two Quantitative Trait Loci with -Globin Expression in -Thalassemia Intermedia Patients

被引：1
作者：
NickAria, Shiva [1 ]
Haghpanah, Sezaneh [1 ]
Ramzi, Mani [1 ]
Karimi, Mehran [1 ]
机构：
[1] Shiraz Univ Med Sci, Hematol Res Ctr, Shiraz, Iran
来源：
HEMOGLOBIN | 2018年 / 42卷 / 02期
关键词：
beta-Thalassemia intermedia (-TI); chromosome 8 (chr8q); Hb F; quantitative trait loci (QTL); XmnI; FETAL-HEMOGLOBIN LEVELS; SICKLE-CELL-DISEASE; BETA-THALASSEMIA; NORMAL INDIVIDUALS; GENE-REGULATION; CHROMOSOME; 8Q; SWISS-TYPE; F-CELLS; HBF; ANEMIA;
D O I：
10.1080/03630269.2018.1463915
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Globin switching is a significant factor on blood hemoglobin (Hb) level but its molecular mechanisms have not yet been identified, however, several quantitative trait loci (QTL) and polymorphisms involved regions on chromosomes 2p, 6q, 8q and X account for variation in the -globin expression level. We studied the effect of interaction between a region on intron six of the TOX gene, chromosome 8q (chr8q) and XmnI locus on the -globin promoter, chr11p on -globin expression in 150 -thalassemia intermedia (-TI) patients, evaluated by statistical interaction analysis. Our results showed a significant interaction between one QTL on intron six of the TOX gene (rs9693712) and XmnI locus that effect -globin expression. Interchromosomal interaction mediates through transcriptional machanisms to preserve true genome architectural features, chromosomes localization and DNA bending. This interaction can be a part of the unknown molecular mechanism of globin switching and regulation of gene expression.
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页码：108 / 112
页数：5
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