?-thalassemia in the German population: Mediterranean, Asian and novel mutations
Autor: | Gebhard Flatz, Jürgen Horst, Antonin Eigel, Yana V. Syagailo, Klaus Wilke |
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Rok vydání: | 1999 |
Předmět: | |
Zdroj: | Human Mutation. 13:258-258 |
ISSN: | 1098-1004 1059-7794 |
Popis: | The beta-thalassemia mutations of 13 unrelated heterozygous Germans who remained unidentified in a previous study of 40 subjects were investigated at the DNA level. Two Mediterranean, one Asian and three novel mutations (CD6 -G, CDs 108 /112-12nt, CDs 130/131 + GCCT) were identified. Altogether, in 30 of the 35 subjects (86%) in which a mutation in the beta-globin gene was identified, the mutation was of Mediterranean origin. The geographical distribution suggests recent migration from the Mediterranean region as cause of the high proportion of frequent Mediterranean beta-thalassemia mutations in the German population. Our results support the notion that the majority of beta-thalassemia genes in the western and central European population are of Mediterranean origin. |
Databáze: | OpenAIRE |
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