Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.
Thalassemia major is a rare disorder in the German population. We describe here the characterization of the beta-globin genes of a German patient homozygous for beta-thalassemia. Gene cloning and sequencing revealed a G to T transversion at the intron 1 donor site of the beta-globin gene on both chromosomes.
Eigel
A
A
Institut für Humangenetik der Universität Münster, Federal Republicof Germany.
Schnee
J
J
Oehme
R
R
Horst
J
J
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005796:Genes; D005860:Germany, West; D005914:Globins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
D005914:Globins