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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| Published in | Hemoglobin Vol. 41; no. 1; pp. 59 - 60 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Taylor & Francis
02.01.2017
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| Subjects | |
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| Abstract | 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. |
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| AbstractList | 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. 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.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. |
| Author | Zhou, Jian-Ying Li, Dong-Zhi Chen, Gui-Lan Xie, Xing-Mei Huang, Lv-Yin Jiang, Fan |
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| SubjectTerms | 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 |
| Title | A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia |
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