Molecular Basis of β-Thalassemia in Morocco: Possible Origins of the Molecular Heterogeneity

被引：19

作者：

Agouti, Imane ^{[1
]}

Badens, Catherine ^{[2
]}

Abouyoub, Ahmed ^{[3
]}

Levy, Nicolas ^{[2
]}

Bennani, Mohcine ^{[1
]}

机构：

[1] Fac Sci & Tech, Lab Biol Appl, Tanger, Morocco

[2] Fac Med Marseille, Ctr Enseignement & Rech Genet Med, F-13385 Marseille, France

[3] Ctr Reg Transfus Sanguine, Rabat, Morocco

来源：

GENETIC TESTING | 2008年 / 12卷 / 04期

关键词：

D O I：

10.1089/gte.2008.0058

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present the molecular spectrum of beta-thalassemia in the Moroccan population obtained by the identification of molecular defects responsible for this disease, and herewith we show that the Moroccan population is genetically heterogeneous; 18 different mutations have been found in the 158 beta-globin chromosomes studied. Eight mutations [codon 39 (C -> T), FSC-8 (-AA), IVS-II-745 (C -> G), -29 (A -> G), FSC-6 (-A), IVS-I-110 (G -> A), IVS-I-2 (T -> C), and IVS-I-1 (G -> A)] out of 18 beta-thalassemia mutations identified accounted for 76% of the Moroccan beta-thalassemia chromosomes. Restriction fragment length polymorphism (RFLP) haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow due to migration.

引用

页码：563 / 568

页数：6

共 52 条

[1] β-thalassemia intermedia due to two novel mutations in the promoter region of the β-globin gene [J].