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Article Abstract
Objective: To improve the accuracy of preimplantation genetic testing (PGT) in deletional α-thalassemia patients.
Design: Article.
Patients: fifty-two deletional α-thalassemia couples.
Interventions: Whole genome amplification (WGA), Next-generation sequencing (NGS) and PCR mutation loci detection.
Main Outcome Measures: WGA, Single nucleotide polymorphism (SNP) and PCR mutation loci detection results; Analysis of embryo chromosome copy number variation (CNV).
Results: Multiple Displacement Amplification (MDA) and Multiple Annealing and Looping-Based Amplification Cycles (MALBAC) methods for PGT for deletional α-thalassemia. Blastocyst biopsy samples (n = 253) were obtained from 52 deletional α-thalassemia couples. The results of the comparison of experimental data between groups MALBAC and MDA are as follows: (i) The average allele drop-out (ADO) rate, MALBAC MDA = 2.27% ± 3.57% 0.97% ± 1.4%, =0.451); (ii) WGA success rate, MALBAC MDA = 98.61% 98.89%, =0.851; (iii) SNP haplotype success rate, MALBAC MDA = 94.44% 96.68%, =0.409; (iv) The result of SNP haplotype analysis is consistent with that of Gap-PCR/Sanger sequencing results, MALBAC MDA = 36(36/72, 50%) 151(151/181, 83.43%), =0; (v) Valid SNP loci, MALBAC MDA = 30 ± 9 34 ± 10, =0.02; (vi) The mean CV values, MALBAC MDA = 0.12 ± 0.263 0.09 ± 0.40, =0.916; (vii) The average number of raw reads, MALBAC MDA =3244259 ± 999124 3713146 ± 1028721, =0; (viii) The coverage of genome (%), MALBAC MDA = 5.02 ± 1.09 5.55 ± 1.49, =0.008.
Conclusions: Our findings indicate that MDA is superior to MALBAC for PGT of deletional α-thalassemia. Furthermore, SNP haplotype analysis combined with PCR loci detection can improve the accuracy and detection rate of deletional α-thalassemia.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10957767 | PMC |
| http://dx.doi.org/10.3389/fendo.2023.1176063 | DOI Listing |
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