П.В. Новиков - Достижения современной генетики и

-
-
-
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
)
.
-
-- -
-