Hb A2-Pasteur-Tunis [δ59(E3)Lys→Asn, AAG→AAC]:: A new chain variant detected by DNA sequencing in a Tunisian carrier of the codon 39 (C→T) β0-thalassemia mutation

被引：7
作者：
Moumni, Imen
Zorai, Amine
Ben Daoued, Bechir
Mosbahi, Ikbel
Omar, Souheil
Kaabachi, Neziha
Dellagi, Koussay
Abbes, Salem
机构：
[1] Laboratoire d'Hématologie Moléculaire et Cellulaire, Institut Pasteur, Tunis
[2] Laboratoire de Biochimie, Hôpital la Rabta, Tunis
[3] Laboratoire d'Hématologie Moléculaire et Cellulaire, Institut Pasteur, Tunis
来源：
HEMOGLOBIN | 2007年 / 31卷 / 01期
关键词：
D O I：
10.1080/03630260601057005
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：
We describe a new delta-globin variant, Hb A(2)-Pasteur-Tunis [delta 59(E3)Lys -> Asn, AAG -> AAC]. This hemoglobin (Hb) displayed an electrophoretic mobility faster than normal Hb A(2) and was expressed at 2.2%. The molecular defect was characterized, by DNA sequencing and confinned by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)-designed protocol. Hb A(2)-Pasteur-Tunis was found in a carrier of a codon 39 (C -> T) beta(0)-thalassemia (thal), presenting with a normal Hb A(2) level. Phenotype and genotype investigations revealed that the total Hb A(2) level of the patient was that expected for a minor beta-thal (4.8%).
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页码：23 / 29
页数：7
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