THE STUDY OF X CHROMOSOME INACTIVATION IN MENTAL RETARDATION: COMPARATIVE ANALYSIS OF MOLECULAR-CYTOGENETIC AND POLYMERASE CHAIN REACTION-BASED TECHNIQUES IN RETT SYNDROME
Iourov IY1, Vorsanova SG2,*, Villard L3, Kolotii AD2, Yurov YB1,*
*Corresponding Author: Professor Yuri B. Yurov and Professor Svetlana G. Vorsanova, Cytogenetic LaboraŽtory National Center of Mental Health, Russian Academy of Medical Sciences, Zagorodnoe shosse 2, Moscow 113 152, Russia; Tel.: +7-095-952-89-90; Fax: +7-095-952-89-40; E-mail: y_yurov@hotmail.com; y_yurov@yahoo. com
page: 33

REFERENCES

1. Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L). Nature 1961; 190: 372-373.

2. Belmont JW. Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 1996; 58(6): 1101-1108.

3. Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF. Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 2002; 71(1): 168-173.

4. Racchi O, Mangerini R, Rapezzi D, Rolfo M, Gaetani GF, Ferraris AM. X chromosome inactivation patterns in normal females. Blood Cells Mol Dis 1998; 24(21): 439-447.

5. Chiurazzi P, Hamel BCJ, Neri G. XLMR genes: update 2000. Eur J Hum Genet 2001; 9(2): 71-81.

6. Hagberg B, Aicardi J, Dias K, Ramos J. A progres­sive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls with Rett’s syndrome: report of 35 cases. Ann Neurol 1983; 14(4): 471-479.

7. Vorsanova SG, Ulas VY, Demidova IA, Kravets VS, Yurov YB. Current data on Rett syndrome: clinical, cytogenetic and molecular studies (in Russian). Zh Nevrol Psikhiatr Im SS Korsakova 1999; 99(3): 61-69.

8. Shahbazian MD, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 muta­tions. Curr Opin Neurol 2001; 14(2): 171-176.

9. Yurov YB, Vorsanova SG, Kolotii AD, Iourov IY.: Molecular-cytogenetic investigation of skewed chromo­some X inactivation in Rett syndrome. Brain Dev 2001; 23(1): 214-217.

10. Iourov IY, Villard L, Vorsanova SG, Ulas VY, Yurov YB. Investigation of skewed chromosome X inacti­vation in Rett syndrome (in Russian). Siberian Gerald of Psychiatry and Addictology 2003; 27(1): 26-28.

11. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51(6): 1229-1239.

12. Trevathan E, Moser H, Opitz J, Percy AK, Naidu S, Holm V. Diagnostic Criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. Ann Neurol 1988; 23: 425-428.

13. Vorsanova SG, Ulas VY, Yurov YB, Giovanucci-Uzielli M-L, Demidova IA, Gianti L, Villard L, Iourov IY, Beresheva AK, Novikov PV. Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients (in Russian). Zh Nevrol Psikhiatr Im SS Korsakova 2002; 102(10): 23-29.

14. Latt SA. Microfluorometric detection of deoxyri­bonucleic acid and replication in human metaphase chro­mosomes. Proc Natl Acad Sci USA 1973;70(12): 3395-3399.

15. Yurov YB, Mitkevitch SP, Alexandrov IA. Appli­cation of cloned satellite DNA sequences to molecular-cytogenetic analysis of constitutive heterochromatin in man. Hum Genet 1987; 76(2): 157-164.

16. Yurov YB, Soloviev IV, Vorsanova SG, Marcais B, Roizes G, Lewis R. High resolution fluorescence in situ hybridization using cyanine and fluorescin dyes: ultra-rapid chromosome detection by directly fluorescently labeled alphoid DNA probes. Hum Genet 1996; 97(3): 390-398.

17. Soloviev IV, Yurov YB, Vorsanova SG, Malet P. Microwave activation of fluorescence in situ hybridiza­tion: a novel method for rapid chromosome detection and analysis. Focus 1994; 16(4): 115-116.

18. Villard L, Levy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieau M, Chelly J, Anvert M, Fontes M. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: impli­cation for the disease. J Med Genet 2001; 38(7): 435-442.

19. Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong M-K, Delaticky M, Thompson EM, Laing N, Christodoulou J. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet 2003; 118A(2): 103-114.

20. Trappe R, Laccone F, Combilanschi J, Meins M, Huppke P, Hanefeld F, Engel W. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 2001; 68(5): 1093-1101.

 




Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006