The use of real-time PCR for the diagnosis of Z gene Pi mutation in patients with alpha-1 antitrypsin deficiency
https://doi.org/10.25789/YMJ.2022.78.04
Abstract
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.
About the Authors
E. V. Tapiev
State Medical Institution RS(Ya) "Republican Hospital No. 1-National Center of Medicine"
Russian Federation
Russian Federation
Tapiev Evgeny Viktorovich – laboratory geneticist
A. Yu. Asanov
I.M. Sechenov First Moscow State Medical University of the Ministry of Health of Russia (Sechenov University)
Russian Federation
Russian Federation
Asanov Aliy Yuryevich – Doctor of Medical Sciences, Professor of the Department of Medical Genetics
O. I. Simonova
National Medical Research Centre of Children's Health of the Ministry of Health of Russia
Russian Federation
Russian Federation
Simonova Olga Igorevna – Doctor of Medical Sciences, Chief Researcher, Pediatrician
A. L. Sukhomyasova
Medical and Genetic Center of the GAU RS(Ya) "Republican Hospital No. 1-National Center of Medicine
Russian Federation
Russian Federation
Sukhomyasova Aitalina Lukinichna – Candidate of Medical Sciences, Head
K. K. Pavlova
State Medical Institution RS(Ya), Republican Hospital No. 1-National Center of Medicine
Russian Federation
Russian Federation
Pavlova Kunna Konstantinovna – Candidate of Medical Sciences, laboratory geneticist
I. Yu. Chebelyaev
I. M. Sechenov First Moscow State Medical University of the Ministry of Health of Russia (Sechenov University)
Russian Federation
Russian Federation
Chebelyaev Igor Yuryevich – Candidate of Medical Sciences, Associate Professor of the Department of Medical Genetics
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Review
For citations:
Tapiev E.V., Asanov A.Yu., Simonova O.I., Sukhomyasova A.L., Pavlova K.K., Chebelyaev I.Yu. The use of real-time PCR for the diagnosis of Z gene Pi mutation in patients with alpha-1 antitrypsin deficiency. Yakut Medical Journal. 2022;(2):16-18. https://doi.org/10.25789/YMJ.2022.78.04
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