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The Spectrum of Beta-Thalassaemia Mutations in the Lebanon

 

作者: L. Zahed,   R. Talhouk,   M. Saleh,   R. Abou-Jaoudeh,   C. Fisher,   J. Old,  

 

期刊: Human Heredity  (Karger Available online 1997)
卷期: Volume 47, issue 5  

页码: 241-249

 

ISSN:0001-5652

 

年代: 1997

 

DOI:10.1159/000154419

 

出版商: S. Karger AG

 

关键词: β-Thalassaemia mutations;Lebanon

 

数据来源: Karger

 

摘要:

We screened 110 DNA samples from carriers of β-thalassaemia, using the ARMS-PCR technique with primers for common Mediterranean mutations. Unidentified samples were subjected to a heteroduplex analysis with Universal Heteroduplex Generators covering the β-globin gene, followed by DNA sequencing. In total, 16 different mutations were detected, the most frequent being IVSI-110 (40%), followed by other common Mediterranean mutations (IVSI-1, IVSII-1, IVSI-6). Other mutations detected were of Lebanese, Turkish, Iranian, Kurdish, Bulgarian and Asian Indian origin. The most heterogeneous religious group seems to be the Sunni Muslims, with 13 mutations, while only 2 mutations were detected among the Christian Maronites. Results from this study are compared with those from other Mediterranean and neighbouring countrie

 

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