ArticleFrontiers in endocrinology2023
Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia.
Article in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed.
- A systematic study of WGA strategies for enhanced STR and SNP genotyping on trace DNA.International journal of legal medicine · 2026Article
- Review
- Exosomes in pancreatic islet biology and diabetes: Mechanisms, Biomarkers, and potential therapeutic perspectives.Journal of molecular histology · 2025Review
- Chronic inflammation in obesity and neurodegenerative diseases: exploring the link in disease onset and progression.Molecular biology reports · 2025Review
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Haplotyping-based preimplantation genetic testing for inherited cardiovascular disease: a multidisciplinary approach.Molecular genetics and genomics : MGG · 2024Article
- Case report: Successful PGT-M based on the identification of a spliceogenic variant in theFrontiers in genetics · 2024Article
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Authors and funding
11 authors.
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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 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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