Two new β chain variants:: Hb Tripoli [β26(B8)Glu→Ala] and Hb Tizi-Ouzou [β29(B11)Gly→Ser]

被引：2
|
作者：
Lacan, P
Becchi, M
Zanella-Cleon, I
Aubry, M
Ffrench, M
Couprie, N
Francina, A [1 ]
机构：
[1] Hop Edouard Herriot, Unite Pathol Mol, Federat Biochim & Biol Specialisee, F-69437 Lyon 03, France
[2] Inst Biol & Chim Prot, Lyon, France
[3] Hop Edouard Herriot, Lab Hematol Biol, Lyon, France
来源：
HEMOGLOBIN | 2004年 / 28卷 / 03期
关键词：
Hb Tripoli; Hb Tizi-ouzou; beta-globin chain variant; Exon; 1; DNA analysis; mass spectrometry (MS);
D O I：
10.1081/HEM-120040313
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：
Two new P-globin chain variants: Hb Tripoli:,codon 26, GAG-->GCG [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou: codon 29, GGC-->AGC [beta29(B11)Gly-->Ser] are described on the first exon of the beta-globin gene. The two variants are characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities were found in the two carriers. The presence of microcytosis and hypochromia is explained by an additional homozygous 3.7 kb alpha(+) thalassemic deletion for the carrier of Hb Tizi-Ouzou. Hb Tizi-Ouzou showed a slight instability in vitro. The same hematological abnormalities associated with anemia are difficult to explain for Hb Tripoli's carrier in the absence of an alpha-globin genes abnormality and could suggest a possible abnormal splicing.
引用
收藏
页码：205 / 212
页数：8
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