Hb J-Anatolia [alpha 61(E10)Lys----Thr]: structural characterization and gene localization of a new alpha chain variant.
We report the characterization of a new hemoglobin variant having a single amino acid substitution (Lys----Thr) at position 61 of the alpha chain. In addition to the structural analysis, we also describe the strategy used for the identification of the base substitution and the localization of the defect at the gene level using polymerase chain reaction and hybridization with allele-specific oligonucleotides.
Giordano
P C
PC
Institute of Human Genetics, Leiden University, The Netherlands.
Fodde
R
R
Amons
R
R
Ploem
J E
JE
Bernini
L F
LF
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics*; D006448:Hemoglobin J / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction; D011247:Pregnancy
D015345:Oligonucleotide Probes; C066863:hemoglobin J Anatolia; D006448:Hemoglobin J; D005914:Globins; D004247:DNA