Massively parallel sequencing uncovered disease-associated variant spectra of glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and galactosemia in Vietnamese pregnant women.

Autor: Nguyen TT; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Le QT; Obstetrics Division, Tu Du Hospital, Ho Chi Minh City, Vietnam., Hoang DT; Obstetrics and Genetics Department, Hung Vuong Hospital, Ho Chi Minh City, Vietnam., Du Nguyen H; Obstetrics Division, Can Tho Gynecology Obstetrics Hospital, Can Tho, Vietnam., Ha TMT; Medical Genetics Department, University of Medicine and Pharmacy, Hue University, Hue, Vietnam., Nguyen MB; Obstetrics and Gynecology Division, Tam Anh Hospital, Ho Chi Minh City, Vietnam., Ta TT; Obstetrics and Gynecology Division, Mekong Hospital, Ho Chi Minh City, Vietnam., Tran NT; Obstetrics and Gynecology Department, University Medical Center, Ho Chi Minh City, Vietnam., Trinh THN; Obstetrics Division, Tu Du Hospital, Ho Chi Minh City, Vietnam., Doan KPT; Biomedicine and Genetics Department, Hanoi Medical University, Hanoi, Vietnam., Lam DT; Obstetrics and Gynecology Department, Can Tho University of Medicine and Pharmacy, Can Tho, Vietnam., Tran STT; Obstetrics and Gynecology Department, Vietnam-Cuba Friendship Dong Hoi Hospital, Quang Binh, Vietnam., Nguyen TX; Obstetrics and Gynecology Department, Hue Central Hospital, Hue, Vietnam., Le HT; Obstetrics Division, Can Tho Gynecology Obstetrics Hospital, Can Tho, Vietnam., Ha VT; Obstetrics and Gynecology Department, Buon Ma Thuot University Hospital, Buon Ma Thuot, Vietnam., Nguyen MH; Obstetrics and Gynecology Department, Dong Nai General Hospital, Dong Nai, Vietnam., Le BK; Obstetrics and Genetics Department, Hung Vuong Hospital, Ho Chi Minh City, Vietnam., Duong ML; Obstetrics and Gynecology Department, Can Tho University of Medicine and Pharmacy, Can Tho, Vietnam., Pham TH; Obstetrics Division, Sai Gon International Gynecology Obstetrics Hospital, Ho Chi Minh City, Vietnam., Tran AT; Obstetrics Division, Sai Gon International Gynecology Obstetrics Hospital, Ho Chi Minh City, Vietnam., Phan XLT; Obstetrics Division, Sai Gon International Gynecology Obstetrics Hospital, Ho Chi Minh City, Vietnam., Huynh TL; Obstetrics Division, Can Tho Gynecology Obstetrics Hospital, Can Tho, Vietnam., Nguyen LT; Obstetrics and Gynecology Department, Long Khanh Hospital, Dong Nai, Vietnam., Vo TB; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Le DN; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Tran NNT; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Tran QNT; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Van YT; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Huynh BT; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Nguyen TT; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Dao TT; Biomedicine and Genetics Department, Hanoi Medical University, Hanoi, Vietnam., Nguyen LPT; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Vo TG; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Do TT; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Truong DK; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Tang HS; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Phan MD; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam., Nguyen HN; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam.; Center for Molecular and Biomedicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam., Giang H; R&D Department, Gene Solutions, Ho Chi Minh City, Vietnam.; Genetics and Genomics Division, Medical Genetics Institute, Ho Chi Minh City, Vietnam.
Jazyk: angličtina
Zdroj: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jul; Vol. 10 (7), pp. e1959. Date of Electronic Publication: 2022 May 03.
DOI: 10.1002/mgg3.1959
Abstrakt: Background: Several inherited metabolic diseases are underreported in Vietnam, namely glucose-6-phosphate dehydrogenase deficiency (G6PDd), phenylketonuria (PKU) and galactosemia (GAL). Whilst massively parallel sequencing (MPS) allows researchers to screen several loci simultaneously for pathogenic variants, no screening programme uses MPS to uncover the variant spectra of these diseases in the Vietnamese population.
Methods: Pregnant women (mean age of 32) from across Vietnam attending routine prenatal health checks agreed to participate and had their blood drawn. MPS was used to detect variants in their G6PD, PAH and GALT genes.
Results: Of 3259 women screened across Vietnam, 450 (13.8%) carried disease-associated variants for G6PD, PAH and GALT. The prevalence of carriers was 8.9% (291 of 3259) in G6PD and 4.6% (152 of 3259) in PKU, whilst GAL was low at 0.2% (7 of 3259). Two GALT variants, c.593 T > C and c.1034C > A, have rarely been reported.
Conclusion: This study highlights the need for routine carrier screening, where women give blood whilst receiving routine prenatal care, in Vietnam. The use of MPS is suitable for screening multiple variants, allowing for identifying rare pathogenic variants. The data from our study will inform policymakers in constructing cost-effective genetic metabolic carrier screening programmes.
(© 2022 Gene Solutions. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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