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Сравнительный анализ спектра мутаций гена фенилаланингидроксилазы в Новосибирской и Кемеровской областях

Сравнительный анализ спектра мутаций гена фенилаланингидроксилазы в Новосибирской и Кемеровской областях

Aims. The study summarizes the diversity of PKU-associated mutations of phenylalanine hydroxylase (PAH) gene in PKU patients from Kemerovo and Novosibirsk region. Methods. To reveal the PAH gene mutations, the researchers applied amplification of DNA fragments covering gene exons with subsequent seq...

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Bibliographic Details
Main Authors: Батурина, О.А., Тупикин, А.Е., Бондарь, А.А., Морозов, И.В.
Format: Article
Language:Russian
Published: Інститут молекулярної біології і генетики НАН України 2013
Series:Фактори експериментальної еволюції організмів
Subjects:
Генетика людини та медична генетика
Online Access:http://dspace.nbuv.gov.ua/handle/123456789/177792
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Summary:Aims. The study summarizes the diversity of PKU-associated mutations of phenylalanine hydroxylase (PAH) gene in PKU patients from Kemerovo and Novosibirsk region. Methods. To reveal the PAH gene mutations, the researchers applied amplification of DNA fragments covering gene exons with subsequent sequencing of the amplification products. Results. The study has revealed both well-known mutations (R158Q, R252W, R261Q, P281L, IVS10–11G>A, R408W, IVS12+1G>A) and some rare (IVS2+5G>A, R155H, Y168H, W187R, E221_D222>Efs, A342T, Y386C, and IVS11+1G>C). Conclusions. We show here that mixed ethnic populations demonstrate a wider PKU allele diversity in comparison withCentral Russia. Key words: phenylketonuria; PAH, mutation.

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