Hemoglobin E and codon 17 nonsense: two beta-globin gene mutations common in Southeast Asia detected by the use of ARMS.
Hemoglobin E (codon 26 GAG-->AAG) and codon 17 nonsense (AAG-->TAG), two clinically important mutations of the beta-globin gene, are common in Southeast Asia. The detection of these mutations using allele-specific PCR is described. Together with the previously reported method for the detection of the common Southeast asian codon 41-42 frameshift mutation (del CTTT), it is possible to identify the vast majority of clinically important beta-globin gene mutations in Southeast Asian populations by means of nonradioactive methods.
Institut für Humangenetik der Universität, Münster, Germany.
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H
Steger
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A
Eigel
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G
Flatz
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J
Horst
D000483:Alleles; D001210:Asia, Southeastern; D001483:Base Sequence; D002886:Chromosomes, Human, Pair 17; D003062:Codon; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000235:genetics
D003062:Codon; D005914:Globins; D006446:Hemoglobin E