A novel mutation in β-globin gene of a patient with β-thalassemia.
- Author:
Yun-Sheng PENG
1
;
Shun-Chang SUN
;
Qun-Rong CHEN
;
Qing WANG
;
Bao-Mei MO
Author Information
1. Department of Clinical Laboratorial Examination, Baoan People Hospital, Shenzhen, China.
- Publication Type:Case Reports
- MeSH:
Adult;
Base Sequence;
DNA Mutational Analysis;
Female;
Humans;
Introns;
Point Mutation;
Protein Biosynthesis;
RNA Splice Sites;
beta-Globins;
genetics;
beta-Thalassemia;
genetics
- From:
Journal of Experimental Hematology
2012;20(2):398-400
- CountryChina
- Language:Chinese
-
Abstract:
This study was aimed to analyze the β-globin gene mutations in a patient with β-thalassemia minor. Genomic DNA was extracted from peripheral blood cells of the patient. The full-length DNA sequence coding for β-globin was amplified by polymerase chain reaction, and the gene mutation was determined by DNA sequencing. The results indicated that a heterogeneous A→G mutation was found at position 129 in intron 1 of the β-thalassemia minor patient. It is concluded that the IVS-I-129(A→G) mutation is a splicing site mutation leading to a splicing error in immature messenger RNA and a protein translation error for the β-globin gene. Thus, the IVS-I-129(A→G) is a novel mutation.
