Allele related mutation specific-polymerase chain reaction for rapid diagnosis of Hb New York (beta 113 (G15) Val-->Glu, beta(CD113 GTG-->GAG)).
Hemoglobin New York (beta 113 (G15) Val-->Glu), a beta-globin variant, was first reported in a Chinese family living in New York. Subsequently, this abnormal hemoglobin was reported in many Chinese descendants from several groups and it was also known as Hb Kaohsiung. The subtle change in alpha1beta1 contact region apart from the heme group connecting area by Val-->Glu substitution has minor changes in both the electrophoretic mobility and stability making this hemoglobin variant difficult to distinguish from Hb A using routine hemoglobin analysis. The authors described a case of heterozygosity of Hb New York diagnosed by a molecular technique and revealed a mutation in beta(CD113 GTG-->GAG). A novel Allele Related Mutation Specific-Polymerase Chain Reaction (ARMS-PCR) for rapid diagnosis of this mutation has been proposed.
Viprakasit
Vip
V
Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, UK.
Tachavanich
Kalaya
K
Suwantol
Lerlugsn
L
Pung-Amritt
Parichat
P
Chinchang
Worawut
W
Tanphaichitr
Voravarn S
VS
D000328:Adult; D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D012680:Sensitivity and Specificity
D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C032181:hemoglobin New York; C020622:hemoglobin B