Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Comparison of three approaches to autosomal recessive diseases carrier screening. / Sotnikova, E. A.; Kiseleva, A. V.; Soplenkova, A. G. и др.
в: Profilakticheskaya Meditsina, Том 26, № 10, 2023, стр. 36-42.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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TY - JOUR
T1 - Comparison of three approaches to autosomal recessive diseases carrier screening
AU - Sotnikova, E. A.
AU - Kiseleva, A. V.
AU - Soplenkova, A. G.
AU - Kutsenko, V. A.
AU - Zharikova, A. A.
AU - Ramensky, V. E.
AU - Vyatkin, Yu V.
AU - Zaicenoka, M.
AU - Ershova, A. I.
AU - Skirko, O. P.
AU - Pokrovskaya, M. S.
AU - Shalnova, S. A.
AU - Meshkov, A. N.
AU - Drapkina, O. M.
N1 - Сотникова Е.А., Киселева А.В., Сопленкова А.Г., Куценко В.А., Жарикова А.А., Раменский В.Е., Вяткин Ю.В., Зайченока М., Ершова А.И., Скирко О.П., Покровская М.С., Шальнова С.А., Мешков А.Н., Драпкина О.М. Сравнение трех подходов к скринингу носительства аутосомно-рецессивных заболеваний // Профилактическая медицина. - 2023. - Т. 26. - № 10. - С. 36‑42. Публикация для корректировки.
PY - 2023
Y1 - 2023
N2 - Carrier screening for common autosomal recessive diseases, such as cystic fibrosis, phenylketonuria, α1-antitrypsin deficiency, and sensorineural hearing loss, is an urgent problem of preventive medicine. Objective. To compare three approaches to autosomal recessive disease carrier screening: genotyping of pre-selected variants (panel of 115 variants) using real-time PCR (real-time PCR panel), sequencing of pre-selected variants using next-generation sequencing (NGS panel), sequencing of all exons of the target genes using NGS (NGS exons). Material and methods. The study included 4544 subjects from two population samples and cohorts of patients with different diseases. Carrier state screening was performed using real-time PCR on QuantStudio 12K Flex and NGS on Nextseq 550. The results were validated by the Sanger sequencing method. Results. Two NGS approaches identified 18 and 24 pathogenic and likely pathogenic variants not included in the 115-variant panel in 31 and 38 subjects, respectively. When comparing the real-time PCR and NGS panel groups, a statistically significant difference was found in the rate of identified carriers of the GJB2 gene. This difference can be explained by incorrect genotyping of the rs80338939 variant in the real-time PCR panel group. When this variant was excluded, the differences were no longer significant. There were no significant differences in the other subgroups. Conclusion. The comparison of the genotyping results demonstrated that the real-time PCR approach has an efficacy comparable to NGS and can be a competitive tool for carrier state screening using an extended list of variants. There were no significant differences in the number of identified carriers using the three approaches.
AB - Carrier screening for common autosomal recessive diseases, such as cystic fibrosis, phenylketonuria, α1-antitrypsin deficiency, and sensorineural hearing loss, is an urgent problem of preventive medicine. Objective. To compare three approaches to autosomal recessive disease carrier screening: genotyping of pre-selected variants (panel of 115 variants) using real-time PCR (real-time PCR panel), sequencing of pre-selected variants using next-generation sequencing (NGS panel), sequencing of all exons of the target genes using NGS (NGS exons). Material and methods. The study included 4544 subjects from two population samples and cohorts of patients with different diseases. Carrier state screening was performed using real-time PCR on QuantStudio 12K Flex and NGS on Nextseq 550. The results were validated by the Sanger sequencing method. Results. Two NGS approaches identified 18 and 24 pathogenic and likely pathogenic variants not included in the 115-variant panel in 31 and 38 subjects, respectively. When comparing the real-time PCR and NGS panel groups, a statistically significant difference was found in the rate of identified carriers of the GJB2 gene. This difference can be explained by incorrect genotyping of the rs80338939 variant in the real-time PCR panel group. When this variant was excluded, the differences were no longer significant. There were no significant differences in the other subgroups. Conclusion. The comparison of the genotyping results demonstrated that the real-time PCR approach has an efficacy comparable to NGS and can be a competitive tool for carrier state screening using an extended list of variants. There were no significant differences in the number of identified carriers using the three approaches.
KW - carrier screening
KW - next-generation sequencing
KW - real-time PCR
KW - targeted sequencing
UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85176613763&origin=inward&txGid=39a69f6fe18d6635e0a8fb1ab30d64d4
UR - https://www.elibrary.ru/item.asp?id=54815344
UR - https://www.mendeley.com/catalogue/2d97e8a9-d12f-39a0-ac1f-c0f3f54e8822/
U2 - 10.17116/profmed20232610136
DO - 10.17116/profmed20232610136
M3 - Article
VL - 26
SP - 36
EP - 42
JO - Профилактическая медицина
JF - Профилактическая медицина
SN - 2305-4948
IS - 10
ER -
ID: 59232844