Identification of Hb Hamadan Mutation (β56 GGC→CGC, (D7) Gly→Arg) which was detected in Cukurova Region for the First Time with Microarray Method

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Tarih

2009

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Walter De Gruyter Gmbh

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Hemoglobin Hamadan is the result of a glycine to arginine change due to GGC. CGC mutation at codon 56 of the beta globin gene. Until today, together with HbS which is the most common mutation in Turkey, fourty nine abnormal hemoglobin mutations have been reported such as rarely observed Hb Hamadan which does not show any clinical symptom. In this study, for the first time, we designed a reporter to Hb Hamadan for Nanogen microarray instrument, by using the base change causing to the mutation of a case which was determined to have an abnormal hemoglobin by sequence analysis. Heterozygous Hemoglobin Hamadan and Hemoglobin Hamadan combined with IVS I-110 mutation was found by using the designed reporter.

Açıklama

Anahtar Kelimeler

Hemoglobin Hamadan, microarray, probe design

Kaynak

Turkish Journal of Biochemistry-Turk Biyokimya Dergisi

WoS Q Değeri

Q4

Scopus Q Değeri

Q3

Cilt

34

Sayı

4

Künye