NSU Research Contributions
Title : Beta-Thalassemia Caused by De novo Mutation in the beta-globin Gene Identified in Two Bangladeshi Families
Authors : Kazi Nadim Hasan, Abu Sufian, Ismail Hosen, Ashish Kumar Mazumder, Abdul Khaleque, Mizanur Rahman, Gias Uddin Ahsan and Sharif Akhteruzzaman
Abstract : De novo mutations represent a unique example of how rare mode of inheritance of genetic variations can influence the onset of genetic diseases. Most of the mutations causing beta-thalassemia in Bangladeshi population were found to be inherited germ line. The study aimed to present two cases of De novo mutations of the beta-globin gene causing beta-thalassemia. Out of one hundred Bangladeshi beta-thalassemia carrier families who were advised for both pre and postnatal molecular characterization of the beta-globin gene to detect the mutation, two cases of De novo mutations were identified in two Bangladeshi families, which is the first of this type of mutation inheritance in Bangladesh. Mutations were determined by sequencing of the entire beta-globin gene by Sanger method. In one family as case A, the foetus proband in the amniotic fluid was found homozygous for the mutation in the codon 26 (G>A) (G>A) [HBB: c.79G>A] and was diagnosed as the beta-thalassemia major. The paternal allele was normal, and only the mother carried one mutant allele. In another family as case B, the proband in the blood of the affected child was found homozygous for the mutation IVS-I-5 (G>C) [HBB: c.92+G>C]. The father did not carry any mutation while the mother was heterozygous for the mutation. In both cases, the possibility of non-paternity was excluded by using STR-based parentages testing, indicating that the acquired mutation in the probands was the result of a De novo event. The study demonstrates the significance of the prenatal diagnosis of beta-thalassemia by DNA sequencing to detect novel, rare or De novo mutation that cannot be identified during screening by haemoglobin electrophoresis.
| Journal : Journal of Blood Disorders and Transfusion | Volume : 9 | Year : 2018 | Issue : 3 |
| Pages : 1 - 5 | City : | Edition : | Editors : |
| Publisher : | ISBN : | Book : | Chapter : |
| Proceeding Title : | Institution : | Issuer : | Number : |
