Hb Westmead: an alpha 2-globin gene mutation detected by polymerase chain reaction and Stu I cleavage.
Hb Westmead or alpha 2 122(H5)His----Gln beta 2 is one of the most common hemoglobin variants in Guangxi, a province in Southern China. The alpha 2-globin DNA sequence of a carrier for this variant was selectively amplified by the polymerase chain reaction and analyzed with the restriction enzyme Stu I. We found that this mutant globin was encoded at the alpha 2 locus and that the CAC----CAG mutation at codon 122 created a new Stu I restriction site. It is easy to detect this mutation by these methods.
Department of Pediatrics, Guangxi Medical College, Nanning, P.R. China.
N H
NH
Jiang
S
S
Liang
X J
XJ
Wen
R
R
Liang
C
C
Su
Z
Z
Tang
D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C056329:Hemoglobin Westmead; D005914:Globins; D004247:DNA; C028868:AGGCCT-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific