Молекулярное тестирование и геномный скрининг фенилкетонурии
Аннотация
В статье обсуждаются значение молекулярного тестирования и геномного скрининга. Приводятся результаты исследований, которые идентифицировали ген фенилаланингидроксилазу у пациентов с фенилкетонурией, найденной при неонатальном скрининге в различных этнических группах. Отмечается, что ген фенилаланингидроксилаза
является основным фактором, определяющим фенотип фенилкетонурии. Идентификация спектра вариантов гена фенилаланингидроксилазы важна для ранней диагностики,понимания молекулярных механизмов, клинического наблюдения, лечения и генетического консультирования.
Библиографические ссылки
Van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Phenylketonuria. Nat Rev Dis Primers. 2021; 7(1): 36. doi: 10.1038/s41572- 021-00267-0
Kan YW, Golbus MS, Trecartin RF, Filly RA, Valenti C, Furbetta M, et al. Prenatal diagnosis of beta thalassemia and sickle-cell anemia: Experience with 24 cases. Lancet 1977, 1, 269–271.
Watson MS, Lloyd-Puryear MA, Rodney Howell R. The Progress and Future of US Newborn Screening. Int. J. Neonatal Screen. 2022; 8: 41-65. doi: 10.3390/ijns8030041
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, et al. A structural variation reference for medical and population genetics. Nature 2020, 581, 444–451. doi: 10.1038/ s41586-020-2287-8
Woo SL, Lidsky AS, Guttler FD, Chandra T, Robson KJ. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature.1983;306:151-155. doi: 10.1038/306151a0
Zhou Y-A, Ma Y-X, Zhang Q-B, Gao W-H, Liu J-P, Yang J-P, et al. Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China. Genet. Mol. Biol. 2012;35(4). doi: 10.1590/S1415-47572012005000069
Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, et al. Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria. Exp Mol Med. 2008;40(5):533–40. doi: 10.3858/emm.2008.40.5.533
Hillert A, Anikster Y, Belanger-Quintana A, Alhashem AM, Alodaib A, Alahaideb L, et al.The genetic landscape and epidemiology of phenylketonuria. Am J Hum Genet 2020; 107: 234- 250.doi: 10.1016/j.ajhg.2020.06.006
Аскерова Т.А., Ягубова В.И., Гусейнова Ф.Д, Гасанова Ш.И., Велиева Г.А. Генетическое исследование фенилкетонурии в Хачмазском районе Азербайджанской Республики. Curieful medical (Молдова). 2012;6 (330):13-16.
T.C. Sağlık Bakanlığı. Yenidoğan tarama programı. Available at: https://dosyaism.saglik. gov.tr/ Eklenti/11173,259822214447pdf.pdf?0.
Ozturk FN, Akin Duman T. An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey. J Pediatr Endocrinol Metab. 2022;35(5):663-668. doi: 10.1515/jpem-2021-0556
Kreile M, Lubina O, Ozola-Zalite I, Lugovska R, Pronina N, Sterna O, et al. Phenylketonuria in the Latvian population: molecular basis, phenylalanine levels, and patient compliance. MolGenet Metab Rep. 2020;25:100671. doi: 10.1016/j.ymgmr.2020.100671
Wang X, Wang Y, Ma D, Zhang Z, Li Y, Yanget P, et al. Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population. Orphanet J Rare Dis.2921; 16: 214. doi: 10.1186/s13023-021-01846-w
Hosseini E, Mousavi SS, Zamanfar D, Hashemi-Soteh SMB. Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran. Clin Lab. 2022;68(1). doi: 10.7754/Clin.Lab.2021.210512
Tolve M, Artiola C, Pasquali A, Giovanniello T, D’Amici S, Angeloni A, et al. Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test. Methods Protoc. 2018;1:30. doi: 10.3390/mps1030030
Rhie A, McCarthy SA, Fedrigo O, Damas J, Formenti G, Koren S, et al. Towards complete and error-free genome assemblies of all vertebrate species. Nature. 2021;592:737–746. doi: 10.1038/ s41586-021-03451-0
Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale S, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2020 update: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet. Med. 2021;23:1381–1390. doi: 10.1038/s41436-021-01172-3
Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, et al. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet. Med. 2021; 23:1582–1584. doi: 10.1038/s41436-021-01278-8
Watson MS, Lloyd-Puryear MA, Rodney Howell R. The Progress and Future of US Newborn Screening. Int. J. Neonatal Screen. 2022; 8: 41-65. doi: 10.3390/ijns8030041
DeCristo DM, Milko LV, O’Daniel JM, Foreman AKM, Mollison LF, Powell BC, et al. Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making. Genom. Med. 2021;13:1–13. doi: 10.1186/s13073-021-00867-1
Genomics England. Available online: https://www.genomicsengland.co.uk/news/public-dialogue-genomics-newborn-screening
