- - - Number of Entries in OMIM (Updated 21 February 2014) : Prefix Autosomal X Linked Y Linked Mitochondrial Totals * Gene description 13,737 670 48 35 14,490 + Gene and phenotype, combined 100 2 0 2 104 # Phenotype description, molecular basis known 3,728 282 4 28 4042 % Phenotype description or locus, molecular basis unknown 1,577 135 5 0 1,717 Other, mainly phenotypes with suspected mendelian basis 1,745 115 2 0 1,862 Totals 20,887 1,204 59 65 22,215 - I - – - - : R) - in situ (FISH- - FISH- – (fluorescence in situ hybridization) in situ, FISH - CGH – – (microarray of DNA probes) - SKY - PRINS- - - c . 2 . 1) , . . 2) ; . 300 ., .(http://reproductivegenetics.com/single-gene-disordertested). 41465 (HVDB 3,5-2013) Next generation sequencing (NGS) Functional genomics laboratory - Omics (metabolomics__, – Stromme P., Hayberg G., 2000) 22 21 9 8 4 6 5 21 100 – - . – personalized medicine - – -1831) -1831) I . 2009; ., ., ( . 2008). . .,2005). 60% - 1) 2) 3) . . - FGFR 4 16.3) FGFR FGFR) – S) CS) - 3- JWS) PS) FGFR) - - : - – – 1959 1962 – - -1 CYP2C9 Arg144Cys -2 CYP2C9 Ile359Leu - VKO-RC1 C1173T - VKO-RC1 G3730A CYP2C9*2 CYP2C9*3 - ,Samer C.F.e.a.,2013) -450 % 1 CYP3A4 40 2 CYP2D6 22 3 CYP2C9 19 4 CYP2C19 9 -450 - - N- ( - S- - (Samer CF e.a.,2013,Bosch TM., 2008 (Bosch TM.,2008): UGT 1A1*28 ) DPD *2A - - -450 -450 CYP3A - - - CYP2D6 - -1, 2, 3, 4,- - CYP - CYP - - - ( CYP2D6 50 CYP2C19 . P4502D6 (CYP2D6) – (Eichelbaum M.et al., 2006) -450, , - . . « . «Knome» www.knome.com). ( Kerem B., KeremE., 1996) « F508del 1677delTA G542X N1303K W1282X CFTRdele2,3 (21 kb) 621+1G-T 1717-1G-A R117H G551S R347P T3381 » 3849+10kbC-T R334W IVS8polyT-5T G85E – –14 –5 - 2-27 -0 -5 (2012 ) - % - 1892759 1861493 98,35 267 1:6971 1892759 1888865 99,79 512 1:3689 1892759 1855295 98,02 194 1:9563 1892759 1873941 99,01 93 1: 20149 1892759 1863674 98,46 181 1: 10296 - - - - - - . - — . I( LIDUA- -L(GalA) (4 16.3)) Q70X ( - 2008 – 2008 – 2008 2008 2009 – 2009 – 2009 2009 1) 2) 6) – – 2010 - 2011 2012 – - ( I - 1 - 2 -15 –70 - 3 - ) Alexion - 20 –75 ( -40 –30, - ) 44 2013 - - Novartis, TSC) - -14 ( Phe Met - - - - - -70 - -70( - - -70( Tyr - - Leu, ile,,val( His Trp,lys Leu Ile,met,thr,val - 2014 - Myozyme ( - - - -40( , Genzyme) 3. 4. 5. 6. 7. 8. 9. 10. 11. ) - Ronald Nagel C . . - . - .) - . . . . c ) . - -- - -