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Фенотип и генотип семейного рассеянного склероза

Фенотип и генотип семейного рассеянного склероза

Abstract

Retrospective and prospective research of 326 patients with multiple sclerosis (MS) on criteria of McDonald (2005) is performed. 25 family cases of RS are revealed. The familial risk of repeatability made 7,0%. 8 polymorphisms being mononucleotide replacements were genotyped with TaqMan technology: CD40 (rs6074022, rs1883832, rs1535045 and rs11086998), rs1800629 (TNFα), rs4149584 (TNFRSF1A), rs10492972 (KIF1B) and rs3135388. Features of РС familial phenotype — softer, innocent course with slow speed of progressing are revealed. The genealogical analysis confirms not Mendelian type of inheritance. Higher frequency of T allelic gene of rs3135388 polymorphism in group of РС familial phenotype is revealed.

Проведено ретроспективно-проспективное исследование 326-ти больных рассеянным склерозом (РС) по критериям McDonald (2005). Выявлено 25 семейных случаев РС. Семейный риск повторяемости составил 7,0 %. С использованием технологии TaqMan генотипировано 8 полиморфизмов, являющихся однонуклеотидными заменами: CD40 (rs6074022, rs1883832, rs1535045 и rs11086998), rs1800629 (TNFα), rs4149584 (TNFRSF1A), rs10492972 (KIF1B) и rs3135388. Выявлены особенности фенотипа семейного РС — более мягкое, доброкачественное течение с медленной скоростью прогрессирования. Генеалогический анализ подтверждает неменделевский тип наследования. Выявлена более высокая частота аллеля Т полиморфизма rs3135388 в группе семейного РС.

Keywords

РАССЕЯННЫЙ СКЛЕРОЗ, СЕМЕЙНЫЕ СЛУЧАИ, ОДНОНУКЛЕОТИДНЫЕ ПОЛИМОРФИЗМЫ

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average