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Article

Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia.

Frontiers in endocrinology - 1 Jan 2023

Lan Yueyun, Zhou Hong, He Sheng, Shu Jinhui, Liang Lifang, Wei Hongwei, Luo Jingsi, Wang Caizhu, Zhao Xin, Qiu Qingming, Huang Peng

Abstract excerpt

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...

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PMID: 38523870
DOI: 10.3389/fendo.2023.1176063
PMCID: PMC10957767

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