title: Ð Ð°Ð·ÑÐ°Ð±Ð¾ÑÐºÐ° ÑÑÐ¾Ð²ÐµÑÑÐµÐ½ÑÑÐ²Ð¾Ð²Ð°Ð½Ð½Ð¾Ð¹ ÑÐµÑÑ-ÑÐ¸ÑÑÐµÐ¼Ñ Ð´Ð»Ñ Ð¿Ð¾Ð¸ÑÐºÐ° ÑÐµÐ´ÐºÐ¸Ñ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² Ð² Ð³ÐµÐ½Ðµ CFTR
title: Ð²ÑÐ¿ÑÑÐºÐ½Ð°Ñ ÐºÐ²Ð°Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ð¾Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð±Ð°ÐºÐ°Ð»Ð°Ð²ÑÐ°
titleType: Subtitle
title: Development of an improved test system for searching for rare variants in the CFTR gene
Creators: name: ÐÐ°ÑÐ¿Ð¾Ð²Ð¸Ñ, ÐÐ¸Ð´Ð¸Ñ
Publisher: name: Ð¡Ð°Ð½ÐºÑ-ÐÐµÑÐµÑÐ±ÑÑÐ³ÑÐºÐ¸Ð¹ Ð¿Ð¾Ð»Ð¸ÑÐµÑÐ½Ð¸ÑÐµÑÐºÐ¸Ð¹ ÑÐ½Ð¸Ð²ÐµÑÑÐ¸ÑÐµÑ ÐÐµÑÑÐ° ÐÐµÐ»Ð¸ÐºÐ¾Ð³Ð¾
Year: 2024
Subjects: Ð¼ÑÐºÐ¾Ð²Ð¸ÑÑÐ¸Ð´Ð¾Ð·
ÑÐµÑÑ-ÑÐ¸ÑÑÐµÐ¼Ð°
Ð¿Ð°ÑÐ¾Ð³ÐµÐ½Ð½ÑÐµ Ð²Ð°ÑÐ¸Ð°Ð½ÑÑ
Ð¿Ð¾Ð»Ð¸Ð¼ÐµÑÐ°Ð·Ð½Ð°Ñ ÑÐµÐ¿Ð½Ð°Ñ ÑÐµÐ°ÐºÑÐ¸Ñ
cystic fibrosis
test system
pathogenic variants
polymerase chain reaction

description: ÐÑÐºÐ¾Ð²Ð¸ÑÑÐ¸Ð´Ð¾Ð· (cystic fibrosis, CF) ÑÐ²Ð»ÑÐµÑÑÑ Ð¾Ð´Ð½Ð¸Ð¼ Ð¸Ð· Ð½Ð°Ð¸Ð±Ð¾Ð»ÐµÐµ ÑÐ°ÑÐ¿ÑÐ¾ÑÑÑÐ°Ð½ÐµÐ½Ð½ÑÑ Ð½Ð°ÑÐ»ÐµÐ´ÑÑÐ²ÐµÐ½Ð½ÑÑ Ð·Ð°Ð±Ð¾Ð»ÐµÐ²Ð°Ð½Ð¸Ð¹, Ð²ÑÐ·Ð²Ð°Ð½Ð½ÑÑ Ð¿Ð°ÑÐ¾Ð³ÐµÐ½Ð½ÑÐ¼Ð¸ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ°Ð¼Ð¸ (Ð¼ÑÑÐ°ÑÐ¸ÑÐ¼Ð¸) Ð² Ð³ÐµÐ½Ðµ CFTR (Cystic Fibrosis Transmembrane Conductance Regulator). Ð¦ÐµÐ»ÑÑ Ð´Ð°Ð½Ð½Ð¾Ð³Ð¾ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ ÑÐ²Ð»ÑÐµÑÑÑ ÑÐ°Ð·ÑÐ°Ð±Ð¾ÑÐºÐ° ÑÑÐ¾Ð²ÐµÑÑÐµÐ½ÑÑÐ²Ð¾Ð²Ð°Ð½Ð½Ð¾Ð¹ ÑÐµÑÑ-ÑÐ¸ÑÑÐµÐ¼Ñ Ð´Ð»Ñ Ð¿Ð¾Ð¸ÑÐºÐ° ÑÐµÐ´ÐºÐ¸Ñ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² Ð² Ð³ÐµÐ½Ðµ CFTR, ÐºÐ¾ÑÐ¾ÑÐ°Ñ Ð¾Ð±ÐµÑÐ¿ÐµÑÐ¸Ñ Ð²ÑÑÐ¾ÐºÑÑ ÑÐ¿ÐµÑÐ¸ÑÐ¸ÑÐ½Ð¾ÑÑÑ Ð² Ð¾Ð¿ÑÐµÐ´ÐµÐ»ÐµÐ½Ð¸Ð¸ Ð¿Ð°ÑÐ¾Ð³ÐµÐ½Ð½ÑÑ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² Ð´Ð»Ñ Ð´Ð¸Ð°Ð³Ð½Ð¾ÑÑÐ¸ÐºÐ¸ Ð¼ÑÐºÐ¾Ð²Ð¸ÑÑÐ¸Ð´Ð¾Ð·Ð°. ÐÑÐ»Ð¾ Ð¾ÑÐ¾Ð±ÑÐ°Ð½Ð¾ 20 ÑÐ°Ð·Ð»Ð¸ÑÐ½ÑÑ Ð¿Ð°ÑÐ¾Ð³ÐµÐ½Ð½ÑÑ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² Ð² Ð³ÐµÐ½Ðµ CFTR, ÐºÐ¾ÑÐ¾ÑÑÐµ Ð½Ð°Ð¸Ð±Ð¾Ð»ÐµÐµ Ð°ÐºÑÑÐ°Ð»ÑÐ½Ñ Ð´Ð»Ñ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ð² Ð¡ÐµÐ²ÐµÑÐ¾-ÐÐ°Ð¿Ð°Ð´Ð½Ð¾Ð¼ ÑÐµÐ´ÐµÑÐ°Ð»ÑÐ½Ð¾Ð¼ Ð¾ÐºÑÑÐ³Ðµ. ÐÐ»Ñ Ð´Ð¸Ð°Ð³Ð½Ð¾ÑÑÐ¸ÐºÐ¸ ÑÑÐ¸Ñ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² Ð±ÑÐ»Ð° ÑÐ°Ð·ÑÐ°Ð±Ð¾ÑÐ°Ð½Ð° in silico ÑÐµÑÑ-ÑÐ¸ÑÑÐµÐ¼Ð° Ð½Ð° Ð¾ÑÐ½Ð¾Ð²Ðµ ÐÐ¦Ð , ÐÐ¦Ð -ÐÐÐ Ð¤ Ð¸ ÑÐµÐºÐ²ÐµÐ½Ð¸ÑÐ¾Ð²Ð°Ð½Ð¸Ñ Ð¼ÐµÑÐ¾Ð´Ð¾Ð¼ Ð¡ÑÐ½Ð³ÐµÑÐ°. ÐÐ¾Ð»ÑÑÐµÐ½Ð½Ð°Ñ ÑÐµÑÑ-ÑÐ¸ÑÑÐµÐ¼Ð° Ð±ÑÐ»Ð° Ð²ÐµÑÐ¸ÑÐ¸ÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð° Ñ Ð¿Ð¾Ð¼Ð¾ÑÑÑ Ð¼ÐµÑÐ¾Ð´Ð° ÑÐµÐºÐ²ÐµÐ½Ð¸ÑÐ¾Ð²Ð°Ð½Ð¸Ñ Ð¿Ð¾ Ð¡ÑÐ½Ð³ÐµÑÑ Ð½Ð° Ð¾Ð±ÑÐ°Ð·ÑÐ°Ñ ÐÐÐ, Ð²ÑÐ´ÐµÐ»ÐµÐ½Ð½Ð¾Ð¹ Ð¸Ð· Ð¿ÐµÑÐ¸ÑÐµÑÐ¸ÑÐµÑÐºÐ¾Ð¹ Ð²ÐµÐ½Ð¾Ð·Ð½Ð¾Ð¹ ÐºÑÐ¾Ð²Ð¸. Ð Ð°Ð·ÑÐ°Ð±Ð¾ÑÐ°Ð½Ð½Ð°Ñ ÑÐµÑÑ-ÑÐ¸ÑÑÐµÐ¼Ð° Ð¸ÑÐ¿Ð¾Ð»ÑÐ·ÑÑÑÑÑ Ð² Ð¿ÑÐ°ÐºÑÐ¸ÐºÐµ Ð»Ð°Ð±Ð¾ÑÐ°ÑÐ¾ÑÐ¸ÐµÐ¹ Ð³ÐµÐ½Ð¾Ð¼Ð¸ÐºÐ¸ Ð¾ÑÐ´ÐµÐ»Ð° Ð³ÐµÐ½Ð¾Ð¼Ð½Ð¾Ð¹ Ð¼ÐµÐ´Ð¸ÑÐ¸Ð½Ñ Ð¸Ð¼. Ð.Ð¡. ÐÐ°ÑÐ°Ð½Ð¾Ð²Ð° Ð¤ÐÐÐÐ£ âÐÐÐ ÐÐÐ¸Ð  Ð¸Ð¼. ÐÑÑÐ°â. ÐÐ°Ð½Ð½Ð°Ñ ÑÐµÑÑ-ÑÐ¸ÑÑÐµÐ¼Ð° Ð¿Ð¾Ð·Ð²Ð¾Ð»ÑÐµÑ ÑÐ²ÐµÐ»Ð¸ÑÐ¸ÑÑ ÐºÐ°ÑÐµÑÑÐ²Ð¾ Ð´Ð¸Ð°Ð³Ð½Ð¾ÑÑÐ¸ÐºÐ¸ Ð¿Ð°ÑÐ¾Ð³ÐµÐ½Ð½ÑÑ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² Ð¿ÑÐ¸ Ð¼ÑÐºÐ¾Ð²Ð¸ÑÑÐ¸Ð´Ð¾Ð·Ðµ Ð´Ð»Ñ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ð¡ÐµÐ²ÐµÑÐ¾-ÐÐ°Ð¿Ð°Ð´Ð½Ð¾Ð³Ð¾ ÑÐµÐ´ÐµÑÐ°Ð»ÑÐ½Ð¾Ð³Ð¾ Ð¾ÐºÑÑÐ³Ð° Ð Ð¾ÑÑÐ¸Ð¹ÑÐºÐ¾Ð¹ Ð¤ÐµÐ´ÐµÑÐ°ÑÐ¸Ð¸, Ð¸, ÐºÐ°Ðº ÑÐ»ÐµÐ´ÑÑÐ²Ð¸Ðµ, ÑÐ»ÑÑÑÐ¸ÑÑ ÑÐ¾ÑÐ½Ð¾ÑÑÑ (ÑÐ¿ÐµÑÐ¸ÑÐ¸ÑÐ½Ð¾ÑÑÑ) Ð²ÑÐ±Ð¾ÑÐ° Ð½Ð°Ð·Ð½Ð°ÑÐ°ÐµÐ¼Ð¾Ð³Ð¾ Ð»ÐµÑÐµÐ½Ð¸Ñ.
description: Cystic fibrosis (CF) is one of the most common hereditary diseases caused by pathogenic variants (mutations) in the CFTR (Cystic Fibrosis Transmembrane Conduction Regulator) gene. The aim of this study is to develop an improved test system for searching for rare variants in the CFTR gene, which will provide high specificity in determining pathogenic variants for the diagnosis of cystic fibrosis. 20 different pathogenic variants in the CFTR gene were selected, which are most relevant for patients in the Northwestern Federal District. To diagnose these variants, an in silico test system based on PCR, PCR-RFLP and Sanger sequencing was developed. The resulting test system was verified using the Sanger sequencing method on DNA samples isolated from peripheral venous blood. The developed test system is used in practice by the Laboratory of Genomics of the Department of Genomic Medicine named after V.S. Baranov of the Federal State Budgetary Scientific Research Institute of AGIR named after Otta.â This test system allows to increase the quality of diagnosis of pathogenic variants in cystic fibrosis for patients of the Northwestern Federal District of the Russian Federation, and, as a result, to improve the accuracy (specificity) of the choice of prescribed treatment.