Kaks uut potentsiaalset markerit kreatiniini taseme mõjutajana

SISUKORD
LÜHENDID ............................................................................................................................... 4
SISSEJUHATUS ........................................................................................................................ 5
1. KIRJANDUSE ÜLEVAADE ............................................................................................. 6
1.1. Neeru ehitus ja funktsioon ........................................................................................... 6
1.1.1. Neeru ehitus .......................................................................................................... 6
1.1.2. Neerude funktsioon .............................................................................................. 7
1.2. Kreatiniin ..................................................................................................................... 7
1.2.1. Kreatiniini moodustumine inimese organismis .................................................... 9
1.2.2. Uriini kreatiniin .................................................................................................... 9
1.2.3. Seerumi/plasma kreatiniin .................................................................................. 10
1.3. Meetodid kreatiniini taseme mõõtmiseks .................................................................. 10
1.4. Kreatiniin kui diagnostiline marker neerude töö hindamiseks .................................. 11
1.4.1. Kreatiniini taseme kasutamine markerina .......................................................... 11
1.4.2. GFR-i mõõtmise meetodid ................................................................................. 12
1.4.3. Valemid neerude töö hindamiseks ...................................................................... 12
1.5. Kreatiniini toksilisus .................................................................................................. 14
1.6. Haigused .................................................................................................................... 14
1.6.1. Kreatiniini taseme muutustega seotud haigused ................................................. 14
1.6.2. Kreatiniini taseme muutusega seotud geneetilised faktorid ............................... 15
2. EKSPERIMENTAALOSA .............................................................................................. 18
2.1. Töö eesmärk ............................................................................................................... 18
2.2. Materjal ja metoodika ................................................................................................ 18
2.2.1. Eesti Geenivaramu valim.................................................................................... 18
2.2.2. Fenotüüp ............................................................................................................. 18
2.2.3. SNP-de tuvastamine ülegenoomse genotüpiseerimise meetodil ........................ 18
2.2.4. Andmete puhastamine ........................................................................................ 18
2.2.5. Imputeerimine ..................................................................................................... 19
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