A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia

We describe a new β-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. In the heterozygote, this allele...

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Bibliographic Details
Published inHemoglobin Vol. 41; no. 1; pp. 59 - 60
Main Authors Jiang, Fan, Huang, Lv-Yin, Chen, Gui-Lan, Zhou, Jian-Ying, Xie, Xing-Mei, Li, Dong-Zhi
Format Journal Article
LanguageEnglish
Published England Taylor & Francis 02.01.2017
Subjects
Adult
Alleles
Amino Acid Substitution
beta-Globins - genetics
beta-Thalassemia - blood
beta-Thalassemia - diagnosis
beta-Thalassemia - genetics
Codon
DNA Mutational Analysis
Erythrocyte Indices
Exons
Frameshift Mutation
Genetic Association Studies
Heterozygote
Humans
Male
Phenotype
β-Globin gene
β-thalassemia
frameshift mutation
β-Globin gene
β-thalassemia
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Summary:We describe a new β-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. In the heterozygote, this allele has the phenotype of classical β-thalassemia (β-thal) minor.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0363-0269
1532-432X
1532-432X
DOI:10.1080/03630269.2017.1295986