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Date Published: 10/03/2021
Abstract Views: 351
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DOI: https://doi.org/10.51298/vmj.v498i1.33
Issue
Vol. 498 No. 1 (2021)
Section
Các bài báo
How to Cite
Hoàng, L., Thị Hoa, N., Liên Hương, N., Văn Nhật Minh, N., & Tiến Trường, Đặng. (2021). PREIMPLANTATION GENETIC TESTING ON Β-THALASSEMIA: CASE REPORT ON ALELLE DROP OUT PHENOMENON OBSERVED BY STR-BASED LINKAGE ANALYSIS. Vietnam Medical Journal, 498(1). https://doi.org/10.51298/vmj.v498i1.33

PREIMPLANTATION GENETIC TESTING ON Β-THALASSEMIA: CASE REPORT ON ALELLE DROP OUT PHENOMENON OBSERVED BY STR-BASED LINKAGE ANALYSIS

Lê Hoàng1, Nguyễn Thị Hoa1, Nguyễn Liên Hương2, Ngô Văn Nhật Minh3, Đặng Tiến Trường3,
1 Bệnh viện đa khoa Tâm Anh
2 Bệnh viện Phụ sản Trung Ương
3 Học viện quân Y

Main Article Content

Abstract

Objective: To report one case performing PGT-M on β-Thalassemia with ADO phenomenon detected by linkage analysis. Materials: At-risk family included wife with Cd17 heterozygous mutation, husband with Cd26 heterozygous mutation and son with Cd17/Cd26 compoud of heterozygous muttaions. Methods: Linkage analysis for haplotyping using STR genotyping. Sanger sequencing for mutation detection. IVF and embryo biopsy for samples. Results: Family tree with linkage analysis and mutation were established. Sanger sequencing results were not concordant with linkage analysis in one embryo due to ADO phenomenon. Conclusions: ADO was the main causes of misdiagnosis. Thus, the combination of direct and indirect diagnosis is needed to overcome this drawback to improve accuracy of PGT.

Article Details

Keywords

β-Thalassemia, STR, PGT

References

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