ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2022.78.04ymj-51Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHПрименение ПЦР реального времени для диагностики мутации Z гена Pi у пациентов с дефицитом альфа-1 антитрипсинаThe use of real-time PCR for the diagnosis of Z gene Pi mutation in patients with alpha-1 antitrypsin deficiencyТапыевЕ. В.TapievE. V.

Тапыев Евгений Викторович – врач-лаборант-генетик

Tapiev Evgeny Viktorovich – laboratory geneticist

genetika@inbox.ruАсановА. Ю.AsanovA. Yu.

Асанов Алий Юрьевич – д.м.н., проф.

Asanov Aliy Yuryevich – Doctor of Medical Sciences, Professor of the Department of Medical Genetics

СимоноваО. И.SimonovaO. I.

Симонова Ольга Игоревна – д.м.н., гл.н.с., врач-педиатр

Simonova Olga Igorevna – Doctor of Medical Sciences, Chief Researcher, Pediatrician

СухомясоваА. Л.SukhomyasovaA. L.

Сухомясова Айталина Лукична – к.м.н., зав.

Sukhomyasova Aitalina Lukinichna – Candidate of Medical Sciences, Head

ПавловаК. К.PavlovaK. K.

Павлова Кюнна Константиновна – к.м.н., врач лаборантгенетик

Pavlova Kunna Konstantinovna – Candidate of Medical Sciences, laboratory geneticist

ЧебеляевИ. Ю.ChebelyaevI. Yu.

Чебеляев Игорь Юрьевич – к.м.н., доцент

Chebelyaev Igor Yuryevich – Candidate of Medical Sciences, Associate Professor of the Department of Medical Genetics

ГАУ РС(Я) «Республиканская больница №1-Национальный центр медицины» (РБ№1-НЦМ)РоссияState Medical Institution RS(Ya) "Republican Hospital No. 1-National Center of Medicine"Russian FederationФГАОУ ВО Первый МГМУ им. И.М. Сеченова Минздрава РоссииРоссияI.M. Sechenov First Moscow State Medical University of the Ministry of Health of Russia (Sechenov University)Russian FederationФГАУ «НМИЦ здоровья детей» Минздрава РоссииРоссияNational Medical Research Centre of Children's Health of the Ministry of Health of RussiaRussian FederationМедико-генетический центр РБ№1-НЦМРоссияMedical and Genetic Center of the GAU RS(Ya) "Republican Hospital No. 1-National Center of MedicineRussian FederationРБ№1-НЦМРоссияState Medical Institution RS(Ya), Republican Hospital No. 1-National Center of MedicineRussian FederationПервый МГМУ им. И. М. СеченоваРоссияI. M. Sechenov First Moscow State Medical University of the Ministry of Health of Russia (Sechenov University)Russian Federation202203022025021618Copyright © Тапыев Е.В., Асанов А.Ю., Симонова О.И., Сухомясова А.Л., Павлова К.К., Чебеляев И.Ю., 20252025Тапыев Е.В., Асанов А.Ю., Симонова О.И., Сухомясова А.Л., Павлова К.К., Чебеляев И.Ю.Tapiev E.V., Asanov A.Y., Simonova O.I., Sukhomyasova A.L., Pavlova K.K., Chebelyaev I.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/51

В статье предложен простой метод выявления одной из наиболее частых мутаций PiZ, ассоциированных с дефицитом альфа-1 антитрипсина, с использованием технологии полимеразно-цепной реакции (ПЦР) в реальном времени. Приоритетное исключение мутации PiZ как наиболее значимой может позволить ускорить диагностику и сделать её более доступной для практического здравоохранения.

The aim of this study is to develop a method for diagnosing PiZ mutation associated with alpha-1 antitrypsin deficiency using real-time PCR technology.A simple method is proposed for detecting one of the most frequent mutations of the Pi gene PiZ associated with alpha-1 antitrypsin deficiency. Priority exclusion of the PiZ mutation as the most significant one may provide rapid diagnosis and make it more accessible to practical healthcare.

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The authors declare that there are no conflicts of interest present.