A new electrophoretically silent beta-globin variant in a Portuguese family: Hb Viseu [beta57(E1)Asn --> Thr].
A new electrophoretically and clinically silent beta-globin variant has been detected by DNA analysis. The mutation was demonstrated at the protein level by reversed phase high performance liquid chromatography (HPLC) and electrospray ionization-mass spectrometry (ESI-MS).
Institute for Medical & Molecular Diagnostics Ltd, CH-8047 Zürich, Switzerland. hannes@imdlab.ch
Hannes
H
Frischknecht
Heinz
H
Troxler
Catherine
C
Forster
Fabrizio
F
Dutly
D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D018389:Codon, Nonsense; D005260:Female; D020868:Gene Silencing; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D017354:Point Mutation; D011174:Portugal / Q000453:epidemiology; D035781:Siblings; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods*
D018389:Codon, Nonsense; D006455:Hemoglobins, Abnormal; C511337:hemoglobin Viseu; D005914:Globins