A Novel Mutation in the Promoter Region of the -Globin Gene: HBB: c.-127G > C

Basit Öğe Kaydı
dc.authorid0000-0002-3015-0929
dc.authorid0000-0002-5321-0701
dc.authorscopusid9242258800
dc.authorscopusid6701448163
dc.authorscopusid57130808000
dc.authorscopusid6701531346
dc.authorwosidBilgen, Turker/N-6376-2018
dc.authorwosidKeser, Ibrahim/I-7702-2017
dc.contributor.authorBilgen, Türker
dc.contributor.authorCanatan, Duran
dc.contributor.authorDelibas, Serpil
dc.contributor.authorKeser, İbrahim
dc.date.accessioned2022-05-11T14:48:07Z
dc.date.available2022-05-11T14:48:07Z
dc.date.issued2016
dc.departmentRektörlüğe Bağlı Bölümler, Rektörlük, Bilimsel ve Teknolojik Araştırmalar Uygulama ve Araştırma Merkezi
dc.description.abstractNovel -globin gene mutations are still occasionally being reported, especially when evaluating milder phenotypes. We report here a novel putative mutation in the promoter region of the -globin gene and assess its clinical implications. A family, parents and four siblings, with hematological and clinical features suspected of being -globin gene mutation(s), were involved in this study. In addition to hematological and clinical evaluations of the whole family, molecular analyses of the -globin gene were performed by direct sequencing. Sequencing of the -globin gene revealed a novel genomic alteration in the regulatory region of the gene. This novel genomic alteration was defined as HBB: c.-127G>C according to the Human Genome Variation Society (HGVS) nomenclature. Two siblings were found to be carriers of the HBB: c.-127G>C mutation, while the other two siblings were carriers of the codon 8 (-AA) (HBB: c.25_26delAA) deletion of the -globin gene. The mother was a compound heterozygote for the codon 8 and HBB: c.-127G>C mutations. Based on hematological and clinical evaluations, we conclude that this novel -globin gene promoter region change would be associated with a mild phenotype of -thalassemia (-thal).
dc.identifier.doi10.1080/03630269.2016.1193513
dc.identifier.endpage282
dc.identifier.issn0363-0269
dc.identifier.issn1532-432X
dc.identifier.issue4en_US
dc.identifier.pmid27349616
dc.identifier.scopus2-s2.0-84976423729
dc.identifier.scopusqualityQ3
dc.identifier.startpage280
dc.identifier.urihttps://doi.org/10.1080/03630269.2016.1193513
dc.identifier.urihttps://hdl.handle.net/20.500.11776/10602
dc.identifier.volume40
dc.identifier.wosWOS:000382568800015
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBilgen, Türker
dc.language.isoen
dc.publisherTaylor & Francis Ltd
dc.relation.ispartofHemoglobin
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectKeywords -Globin
dc.subject-thalassemia (-thal)
dc.subjectpromoter region
dc.subjectHeterozygous Beta-Thalassemia
dc.subjectPhenotype
dc.subjectAssociation
dc.subjectIntermedia
dc.subjectGenotype
dc.titleA Novel Mutation in the Promoter Region of the -Globin Gene: HBB: c.-127G > C
dc.typeArticle

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
10602.pdf
Boyut:
191.08 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Bilimsel ve Teknolojik Araştırmalar Uygulama ve Araştırma Merkezi Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu