Iedzimtu hiperholesterinēmiju izraisošo mutāciju noskaidrošana Latvijas populācijā

6533b7dbfe1ef96bd12704d2

RESEARCH PRODUCT

Iedzimtu hiperholesterinēmiju izraisošo mutāciju noskaidrošana Latvijas populācijā

subject

PCSK9 LDLR Iedzimta hiperholesterinēmija pusvadītāja sekvenēšana Bioloģija APOB

description

Iedzimta hiperholesterinēmija (IH) ir nopietna ģenētiskā slimība, kurai raksturīgs paaugstināts zema blīvuma lipoproteīnu holesterīna daudzums asinīs. IH ir riska faktors sirds-asinsvadu slimībām. Šīs slimības cēlonis visbiežāk ir mutācijas četros gēnos – LDLR, APOB, PCSK9 un LDLRAP1. Darba mērķis bija noskaidrot IH fenotipu izraisošās mutācijas četros gēnos Latvijas populācijā, izmantojot liela apjoma paralēlās sekvenēšanas metodi. Darbā tika analizētas mutācijas 98 pacientos, kuriem ir aizdomas par IH. Ģenētisko variāciju noteikšanai tika izmantota jaunās paaudzes pusvadītāja sekvenēšanas metode. Rezultātā tika atrastas 97 dažādas nomaiņas, vairums no kurām ir APOB un LDLR gēnos, bet vismazāk LDLRAP1 gēnā. IH diagnoze tika apstiprināta septiņiem pacientiem (7,1 %).

year	journal	country	edition	language
2015-01-01

https://dspace.lu.lv/dspace/handle/7/28574

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