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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