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β‐thalassemia in the German population: Mediterranean, Asian and novel mutations
Author(s) -
Flatz Gebhard,
Wilke Klaus,
Syagailo Yana V.,
Eigel Antonin,
Horst Jürgen
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:3<258::aid-humu16>3.0.co;2-4
Subject(s) - mediterranean climate , biology , thalassemia , genetics , mutation , population , german , german population , gene , beta thalassemia , demography , geography , ecology , archaeology , sociology
The β‐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 β‐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 β‐thalassemia mutations in the German population. Our results support the notion that the majority of β‐thalassemia genes in the western and central European population are of Mediterranean origin. © 1999 Wiley‐Liss, Inc.