Тип публикации: статья из журнала
Год издания: 2018
Идентификатор DOI: 10.25837/HAT.2018.49..1..006
Ключевые слова: безопасность гемотрансфузий, мутация V617F гена JAK2, молекулярно-генетический скрининг, transfusion safety, Jak2, molecular-genetic screening
Аннотация: Представлены результаты тестирования 1231 пробы крови, взятой у 1 150 доноров, на соматическую мутацию V617F в гене JAK2. Исследование проводили с помощью метода аллельспецифической полимеразной цепной реакции в режиме реального времени (ПЦР-РВ) в объединенных образцах венозной крови. Мутацию выявили в 8 (0,65%) пробах у 5 мужчин вПоказать полностьювозрасте от 31 до 52 лет. Величина аллельной нагрузки составляла от 0,07 до 2,6%. Стаж донорства от 7,5 до 13 лет с числом донаций от 16 до 90 имели 4 из 5 носителей мутации. Гематологические сдвиги, характерные для истинной полицитемии, послужили причиной отклонения от донации 1 мужчины с мутацией V617F гена JAK2. Способность мутантного клона к образованию независимых от эритропоэтина колоний in vitro и образованию экстрамедуллярных очагов кроветворения ставит вопрос о безопасности гемотрансфузий и трансплантации костного мозга от доноров, несущих данную мутацию. Вопрос влияния частоты кроводач на риск возникновения соматической мутации в гене JAK2 требует дополнительного изучения. We present the results of testing 1231 venous blood samples from 1150 blood donors for V617F somatic mutation in the JAK2 gene. The tests were performed using allele-specific real-time polymerase chain reaction in pooled venous blood samples. The mutation was found in 8 (0.65%) samples from 5 men aged 31-52 years. The allelic load of the mutant gene was 0.07-2.6%. Four of the five mutation carriers had been donors for 7.5 - 13 years and had made 16 to 90 donations each. Only one of the five men had developed hematological changes characteristic of polycythemia that caused to refrain him from donations. Ability of the mutant clones to form the erythropoietin-independent colonies in vitro and generate foci of extramedullary proliferation raises the concern about safety of blood transfusions and bone marrow transplantations from donors carrying the JAK2 V617F mutation. Whether the frequency of blood donations increases the risk of somatic mutations in JAK2 is a question that requires further studies. We presentthe results of testing 1 23 1 venous blood samples from 1 1 50 blood donors for V617F somatic mutation in the JAK2 gene. The tests were performed using allele-specific real-time polymerase chain reaction in pooled venous blood samples. The mutation was found in 8 (0.65%) samples from 5 men aged 31-52 years. The allelic load of the mutant gene was 0.07-2.6%. Four of the five mutation carriers had been donors for 7.5- 1 3 years and had made 1 6 to 90 donations each. Only one of the five men had developed hematological changes characteristic of polycythemia that caused to refrain him from donations. Ability of the mutant clones to form the erythropoietin-independent colonies in vitro and generate foci of extramedullary proliferation raises the concern about safety of blood transfusions and bone marrow transplantations from donors carrying the JAK2 V617F mutation. Whether the frequency of blood donations increases the risk of somatic mutations in JAK2 is a question that requires further studies. © 2018 Izdatel'stvo Meditsina. All rights reserved. We present the results of testing 1231 venous blood samples from 1150 blood donors for V617F somatic mutation in the JAK2 gene. The tests were performed using allele-specific real-time polymerase chain reaction in pooled venous blood samples. The mutation We present the results of testing 1231 venous blood samples from 1150 blood donors for V617F somatic mutation in the JAK2 gene. The tests were performed using allele-specific real-time polymerase chain reaction in pooled venous blood samples. The mutation
Журнал: Гематология и трансфузиология
Выпуск журнала: Т. 63, № 1
Номера страниц: 65-70
ISSN журнала: 02345730
Место издания: Москва
Издатель: Общество с ограниченной ответственностью Издательский дом Практика