Background: β-thalassemia is one of the most common monogenic diseases worldwide. Preimplantation genetic testing (PGT) of β-thalassemia is performed to avoid affected pregnancies has become increasingly popular worldwide. In which, the indirect analysis using short tandem repeat (STRs) linking with HBB gene to detect different β-globin (HBB) gene mutation is a simple, accurate, economical and also provides additional control of contamination and allele-drop-out ADO.
Aim: This study established microsatellite markers for PGT of Vietnamese β-thalassemia patient.
Methods: Fifteen (15) STRs gathered from 5 populations were identified by in silico tools within 1 Mb flanking the HBB gene. The multiplex PCR reaction was optimized and performed on 106 DNA samples from at-risk families.
Results: After estimating, PIC values were ≥ 0.7 for all markers, with expected heterozygosity and observed heterozygosity values ranged from 0.81 to 0.92 and 0.53 to 0.86, respectively. One hundred percent of individuals had at least seven heterozygous markers and were found to be heterozygous for at least two markers on either side of the HBB gene.
Conclusion: In general, a pentadecaplex marker (all < 1 Mb from the HBB gene) assay was constituted for β-thalassemia PGT on Vietnamese population.
Keywords: Microsatellite markers; Preimplantation genetic testing (PGT); Short tandem repeat (STRs); β-thalassemia.
Copyright: © 2019 Dang Tien Truong, Ngo Van Nhat Minh, Dinh Phuong Nhung, Hoang Van Luong, Do Quyet, Tran Ngoc Anh, Trinh The Son, Nguyen Thanh Tung, Nguyen Thi Thu Ha, Duong Thi Phuong Anh, Le Hoang, Nguyen Le Thuy, Nguyen Thi Hoa, Nguyen Duy Bac, Vu Thi Nga, Toi Chu Dinh.