Hb Utrecht [alpha 2 129(H12)Leu-->Pro], a new unstable alpha 2-chain variant associated with a mild alpha-thalassaemic phenotype.
We describe a new alpha 2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild alpha-thalassaemic phenotype, is not detectable at the protein level. The alpha 2 cd129 (CTG-->CCG) transition was found by molecular analysis using denaturing gradient gel electrophoresis (DGGE) and single-strand conformation analysis (SSCA) followed by direct sequencing of the alpha 2-globin gene. Southern analysis revealed a triplication of the zeta-gene in cis with the mutant alpha-globin gene.
Harteveld
C L
CL
Department of Human Genetics, University of Leiden, The Netherlands.
Giordano
P C
PC
Losekoot
M
M
Heister
J G
JG
Batelaan
D
D
van Delft
P
P
Bruin
M C
MC
Bernini
L F
LF
D015139:Blotting, Southern; D002648:Child; D005260:Female; D005914:Globins / Q000378:metabolism*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins