Hemoglobin alpha 2 gene +861 G>A polymorphism in Turkish population

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dc.contributor.advisorAkar, Nejat
dc.contributor.authorÖzdag, Hilal
dc.contributor.authorIDhttp://orcid.org/0000-0001-7940-2499tr_TR
dc.contributor.departmentBiyoteknoloji Enstitüsütr_TR
dc.contributor.otherDungul, Dilay Ciglidag
dc.date.accessioned2020-05-06T06:55:25Z
dc.date.available2020-05-06T06:55:25Z
dc.date.issued2011
dc.description.abstractThalassemia is an inherited blood disorder which is divided into two groups: alpha and beta. HBA1 and HBA2 are the two genes associated with alpha thalassemia. The aim of this study is to investigate abnormal hemoglobin variants of alpha globin gene in healthy abnormal hemoglobin carrying individuals with intact beta globin gene. DNA was extracted from peripheral blood samples of seven healthy carrier individuals who have abnormal hemoglobin variants and 16 control individuals from Turkey. Complete coding and intronic sequences of HBA1 and HBA2 genes were amplified by polymerase chain reaction (PCR) and PCR products of HBA1 and HBA2 were sequenced. We were unable to find any base change in our carrier group in the HBA1 gene. We have observed an A/G polymorphism in the downstream untranslated region (+861 G>A) of the HBA2 gene. Our study showed that 14.29% (1/7 carriers) of the carrier group and 37.50% (6/16 controls) of the control group were heterozygous for the +861 G>A polymorphism. The distribution of allele frequencies and genotypes of HBA2 between carrier and control samples were analyzed and it is seen that the distribution of allele frequencies and that of genotypes were not statistically significant between carrier and control samples (P-value = 0.4131, P-value = 0.366, respectively). HBA2 +861 G>A nucleotide substitution is a neutral polymorphism previously reported in other populations. This is the first report in Turkish population.tr_TR
dc.description.indexScopus
dc.identifier.endpage62tr_TR
dc.identifier.issue1tr_TR
dc.identifier.startpage59tr_TR
dc.identifier.urihttps://doi.org/10.1016/j.ejmhg.2011.02.005tr_TR
dc.identifier.urihttp://hdl.handle.net/20.500.12575/71213
dc.identifier.volume12tr_TR
dc.language.isoentr_TR
dc.relation.isversionof10.1016/j.ejmhg.2011.02.005tr_TR
dc.relation.journalEgyptian Journal of Medical Human Geneticstr_TR
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıtr_TR
dc.subjectAlpha thalassemiatr_TR
dc.subjectHBA1tr_TR
dc.subjectHBA2tr_TR
dc.subjectPolymorphismtr_TR
dc.titleHemoglobin alpha 2 gene +861 G>A polymorphism in Turkish populationtr_TR
dc.typeArticletr_TR

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