Beta-thalassemia in the German population: mediterranean, Asian and novel mutations. Mutations in brief no.228. Online.
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.
Flatz
G
G
Human Genetics, Medizinische Hochschule, Hannover, Germany.
Wilke
K
K
Syagailo
Y V
YV
Eigel
A
A
Horst
J
J
D004252:DNA Mutational Analysis; D005858:Germany; D006801:Humans; D017086:beta-Thalassemia / Q000208:ethnology / Q000235:genetics*