Beta-thalassemia in the German population: mediterranean, Asian and novel mutations. Mutations in brief no.228. Online.
Hum Mutat
; 13(3): 258, 1999.
Article
em En
| MEDLINE
| ID: mdl-10090486
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
Idioma:
En
Ano de publicação:
1999
Tipo de documento:
Article