?-thalassemia in the German population: Mediterranean, Asian and novel mutations

Autor:	Gebhard Flatz, Jürgen Horst, Antonin Eigel, Yana V. Syagailo, Klaus Wilke
Rok vydání:	1999
Předmět:	Mediterranean climate Genetics Mutation Thalassemia European population Biology medicine.disease_cause medicine.disease German population hemic and lymphatic diseases medicine Gene Genetics (clinical)
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
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::33ff3e74c5b9674a45c7350db4f5614d https://doi.org/10.1002/(sici)1098-1004(1999)13:3<258::aid-humu16>3.0.co Zobrazit plný text záznamu Plný text