исследование нарушений центральной нервной системы и

advertisement
9
: 616.155.16
.
,
,
» - http://www.famous-scientists.ru
,
.
.
638
-
14
,
-
,
.
:
,
,
,
,
,
,
.
-
5%
-
19-
,
20-30%
-
[11; 13].
,
-
,
EUROCAT [7].
-
15
,
2-3% [15].
26,4%
,
(
1000
.
70%
,
Spina bifida
1000
),
-
1,5-2,5
,
[9; 10].
,
1
,
47, XXY)
1000
1,5
[16].
,
-
,
-
-
[2; 14].
-
(
,
-
,
.
0,5-0,7
1000
- 5-10
1000
,
-
[8].
,
10%
-
.
13,2-24,1%,
– 12,1-13,4%.
3, 2009
-
10
25-
-
33%
(
) [6].
-
[12].
-
. [5].
«
,
,
,
».
6%
-
,
-
0,65 – 2%
.
1
-
[3].
[4].
650-1000
-
,
75%
-
,
[17].
-
,
.
-
,
,
,
-
(
) [1].
(46,3% 48,75%),
(37,96% 35,0%)
(15,74%
16,25%),
(54,48%),
(34,14%)
(11,38%).
–
.
(
–
-
9
. 1).
-
,
.
,
-
,
,
(
. 1).
2005
2008
.
-
,
,
.
.
-
-
.
.
-
.
47,
-
–
.
3, 2009
,
14
-
11
30
25
,%
20
15
10
5
0
0
1
2
3
4
5
6
7
8
9
. 1.
1.
; 2.
; 3.
; 4.
; 9.
; 7.
–
–
; 5. Spina bifida; 6.
(
–
); 8.
1.
,%
(
,
(
(
,
,
Spina bifida
,
)
-
0,0159
0,0119
0,0106
0,0093
0,0066
0,0066
0,0149
0,0088
0,0156
0,0061
0,0081
0,0054
0,0220
0,0130
0,0163
0,0106
0,0114
0,0098
-
0,0053
-
0,0075
0,0007
-
0,0081
0,0024
0,0016
)
)
)
(
)(
(
–
(
)
)
(
,
)
(
(
-
,
)
Y)
–
–
)
:
,
–
-
,
–
,
,
-
–
-
–
,
–
td=3,0969, P<0,002).
(
2
<0,005;
,
(
>0,05; P>0,05),
2
,
3, 2009
-
12
,
-
,
(
. 2).
2.
,
(
(
(
(
)
,%
19,51
26,83
24,39
29,27
)
)
)
-
.
3,80
60,76
13,29
22,15
– 0,0147%, 0,0093%
.
0,0016%.
-
0,0102%,
0,0027%
,
0,0159%
( 2 >0,05; P>0,05).
,
638
,
0,0301%.
-
0,0650%.
9,52
28,57
17,86
44,05
,
14
64,29%
,
,
,
-
-
,
.
.
-
,
,
25
,
.1).
2
( <0,005;
-
(
.
,
,
P<0,002, td=3,1079),
,
–
( 2 >0,05; P>0,05).
-
,
,
.
:
:
1.
-
.
,
-
0,0155%,
– 0,0132%
.
0,0095%,
.
.
2.
//
10. 2007. . 22-25.
.,
3, 2009
.
-
13
//
1 (136). 2007. . 26-28.
.
.
. - .:
.
3.
:
1998. 459 .
4.
.
.
.…
.
.
.:
. 1978. 546 .
.,
.
5.
.
6.
.,
. .:
11.
:
.
:
, 2007, 24 .
. 2007. 80
.
7.
.,
.,
.
8.
9.
: STT. 1999. 256 .
.
.
:
. 1982. 182 .
.
:
.
., 1993, 40 .
10.
.:
.,
-
.
. …
:
/
.
. 1991. 478 .
.
.
.
.,
.,2007, 44 .
12.
.
. .:
.
.…
. 1982.
200 .
13. Begley C.E. The cost of epilepsy
in the United States: an estimate from population-based clinical and survey data // Epilepsy. 2000. 41 (3): 342-351.
14. Carmona R.H. The global challenges of birth defects and disabilities // Lancet. 2005. 366: 1144-46.
15. Cooper B. Nature, nurture and
mental disorder: old concepts in the new millennium // Brit. J. of Psychiatry. 2001. V.178
(suppl.40). P. 91-102.
16. Sadeghi-Nejad
H.,
Farrokhi
F. Genetics of Azoospermia: Current Knowledge, Clinical Implications, and Future Directions. Part I // Urology Journal. Vol. 3. N.4.
2006. P.193-203.
17. Van Camp G., Willems P.J., Smith
R.J. Nonsyndromic hearing impairment: unparalleled heterogeneity // Am. J. Hum. Genet. 1997. 60: 758-64.
RESEARCH OF INFRINGEMENTS OF CENTRAL NERVOUS SYSTEM AND SENSE
ORGANS AMONG THE POPULATION OF WESTERN REGION OF AZERBAIJAN
Akperova G.A.
The Baku State University, Baku, Azerbaijan
Medical-genetic researches on revealing infringements CNS and sense organs among the
population of Western zone of Azerbaijan are carried out, types of inheritance of pathologies are
established. Karyotype of patients by Klinefelter syndrome by the sytogenesis analysis identifies. Among 638 patients with 14 hereditary and congenital diseases more than half falls at monogenic pathologies with autosome-recessive type of inheritance that speaks high frequency of
consanguineous marriages among parents of the probands, characteristic for a researched zone
of republic.
Key words: Genetics of populations, diseases of CNS and sense organs, consanguineous
marriages, type of inheritance, sytogenesis analysis.
3, 2009
14
3, 2009
Download