Analysis of the ?4.2 deletion mutation and ?? / -?4.2 / ?CD8 (-AA) / ?N co-inheritance and and the prediction of the structure and function of mutant hemoglobin proteins
Penulis/Author
Prof. Dr. Niken Satuti Nur Handayani, M.Sc. (1)
Tanggal/Date
9 2019
Kata Kunci/Keyword
Abstrak/Abstract
Background and Objective: Thalassemia is a genetic disorder caused by mutations in the globin gene. The ?4.2 deletion mutation is a silent trait mutation, but in this study the hematological value of MHC and MCV is lower than the normal range and there are morphological abnormalities of erythrocytes. The aim of this research is to determine the cut off point of ?4.2 deletion, predict and analyze the effect of ?-thalassemia heterozygous mutation associated with ?4.2 deletion and co-inheritance of ?? / -?4.2 / ?CD8 (-AA) / ?N to the associated hemoglobin protein with physiological abnormalities. Materials and Method: DNA samples were sequenced by the Sanger method. The alignment process was done by using Clustel Omega, prediction and analysis of the structure of hemoglobin was done by using Chimera and Discovery Studio. Results: The cut off point for ?4.2 deletion is between base number 26 of the X2 box sequence and base number 347 of the X1 box sequence. The ?4.2 deletion and the ?? / -?4.2 / ?CD8 (-AA) / ?N co-inheritance have the same protein structure as normal protein residues and all interactions that stabilize the protein. Low MCH and MCV values and morphological abnormalities of erythrocytes are a consequence of lack of ? and ? subunits due to mutations. Conclusion: The analysis concluded that ?4.2 single gene deletion and ?CD8 (-AA) / ?N partial deletions consistantly produce normal hemoglobin structures with normal function.
