ОПРЕДЕЛЕНИЕ РЕФЕРЕНСНЫХ ИНТЕРВАЛОВ TREC И KREC ДЛЯ СКРИНИНГА НОВОРОЖДЕННЫХ С ИММУНОДЕФИЦИТНЫМИ СОСТОЯНИЯМИ В РФ

В настоящей работе мы использовали популяционную выборку сухих пятен крови новорожденных на картах Гатри размером 2739 индивидуальных образцов для определения референсного интервала значений молекул ДНК TREC и KREC с целью диагностики первичных иммунодефицитных состояний в неонатальном скрининге. Медиана полученных абсолютных значений TREC и KREC составила 195 (CI95%: 185-206) и 185 (CI95%: 176-197) копий на мкл, соответственно, нормированных значений для TREC – 2780 (CI95%: 2690-2840) и для KREC – 2790 (CI95%: 2700-2900) копий на 2 × 10⁵ копий гена альбумина или 10⁵ ядросодержащих клеток. Референсный интервал рассчитывался для 99 и 99,9 перцентилей всех величин TREC и KREC. Для фильтрации «выпадающих» значений (outliers) был применен критерий Тьюки после логарифмической трансформации данных, ввиду их несимметричного распределения. При анализе абсолютных значений (TREC/KREC на мкл крови) не было идентифицировано «выпадающих» значений TREC, для KREC из дальнейшего анализа было исключено 18 значений (от 9,8 до 13,5). В нормированных значениях TREC/KREC «выбросов» не выявлено. Полученные референсные значения TREC и KREC (на уровне 0,1 перцентиля) составили 458 и 32 на 10⁵ ядросодержащих клеток, 23 и 17 на мкл крови новорожденных соответственно.

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