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Hb Hekinan in a Taiwanese Subject: A G→T Substitution at Codon 27 of the α1-Globin Gene Abolishes anHaeIII Site
- Source :
- Hemoglobin. 31:495-498
- Publication Year :
- 2007
- Publisher :
- Informa UK Limited, 2007.
-
Abstract
- We recently observed a heterozygote for Hb Hekinan in a Taiwanese subject. The molecular lesion of Hb Hekinan is a substitution of G--T at codon 27 of the alpha1-globin gene, which abolishes an HaeIII restriction enzyme site. Hb Hekinan [alpha27(B8)Glu--Asp, GAG--GAC (alpha2)] has not been found in Taiwan. This variant can be detected by high performance liquid chromatography (HPLC) but not by capillary or cellulose electrophoresis.
- Subjects :
- Male
Genetics
Hemoglobins, Abnormal
Biochemistry (medical)
Clinical Biochemistry
Taiwan
Heterozygote advantage
Hematology
Biology
Hb Hekinan
Molecular biology
HaeIII
Amino Acid Substitution
alpha-Thalassemia
Restriction Enzyme Site
medicine
Humans
Point Mutation
Globin gene
Child
Deoxyribonucleases, Type II Site-Specific
Molecular lesion
Gene
Genetics (clinical)
medicine.drug
Subjects
Details
- ISSN :
- 1532432X and 03630269
- Volume :
- 31
- Database :
- OpenAIRE
- Journal :
- Hemoglobin
- Accession number :
- edsair.doi.dedup.....bead8c39e94ef9778948708c11bafc16