Identification of molecular basis of [beta]-thalassemia/HbE gene in Thai population using synthetic oligonucleotide probes
1
Issued Date
2023
Copyright Date
1989
Language
eng
File Type
application/pdf
No. of Pages/File Size
xvii, 172 leaves : ill.
Access Rights
restricted access
Rights Holder(s)
Mahidol University
Bibliographic Citation
Thesis (Ph.D. (Biochemistry))--Mahidol University, 1989
Suggested Citation
Songsak Petmitr Identification of molecular basis of [beta]-thalassemia/HbE gene in Thai population using synthetic oligonucleotide probes. Thesis (Ph.D. (Biochemistry))--Mahidol University, 1989. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/89664
Title
Identification of molecular basis of [beta]-thalassemia/HbE gene in Thai population using synthetic oligonucleotide probes
Author(s)
Abstract
β-Thalassemia is a genetic disorder causing a complete absence of B-globin chain in hemoglobin. In Thai population, β-Thalassemia associated with HbE (β(26)GAG--->AAG) is found in high frequency. More than 50 types of molecular mutations in B-thalassemic gene have been reported, including large sequence deletion, short sequence deletion or insertion, and single base substitution. The presence of large sequence deletion (619 b and 3.4 kb) were screened in 60 Thai patients with β-thalassemia/HbE using fragment length analysis, but none were detected. Single base substitution or insertion and short sequence deletion in β-globin gene of 30 Thai patients with β-thalassemia/HbE were screened by direct gel hybridization of BamH I fragmented DNA and by dot-blot hybridization of amplified DNA with a set of allele specific oligodeoxyribonucleotide probes. Frequency of mutations detected were as follows : 17 cases of a 4 base-pair deletion at codons 41-42, 5 cases of amber mutation (TAG) at codon 17, one case each of a single base substitution (G-->C) at position 5 of IVS-I, a single base substitution (C-->T) at position 654 of IVS-II, and ochre mutation (TAA) at codon 35. However, no mutations of single nucleotide (A) insertion at codons 71-72 were found. These data provide a basis for future application of prenatal diagnosis by DNA hybridization.
Degree Name
Doctor of Philosophy
Degree Level
Doctoral Degree
Degree Department
Faculty of Science
Degree Discipline
Biochemistry
Degree Grantor(s)
Mahidol University