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Trieutien, Sang; Vu Van, Tam; Tran Ngoc Thao, My; Trinh The, Son; Tran Van, Khoa; Nguyen Thanh, Tung; Tran Van, Tuan; Nguyen Thi, Hanh
Application of clinical genetics, 01/2021, Volume: 14Journal Article
Epidermolysis bullosa (EB) is a disorder characterized by the appearance of blisters, erosions and wounds in response to minimal trauma. The disease manifests with noticeable symptoms ranging from mild to severe, classified into four major types: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB) and Kindler syndrome. Preimplantation genetic diagnosis for the disease remains the only available option for families at risk for the recurrence of the disorder without having to terminate an ongoing pregnancy. A novel mutation was used to design primers for the polymerase chain reaction (PCR) to amplify the segment spanning the mutation in the family and their in-vitro fertilization (IVF) embryos. Then, the PCR products were sequenced with Sanger sequencing to detect the alteration in the allele, and some embryos would go through NGS-based preimplantation screening for chromosomal abnormalities. The established protocol for EB detected mutant allele in 6/9 embryos (66.6%), while the remaining 3 embryos (33.4%) appeared to not carry any mutation. Only one among 3 embryos was recommended to be transferred into the mother's uterus. The established preimplantation genetic diagnosis procedure is helpful to families affected by epidermolysis bullosa caused by mutations but wish to have healthy children.
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