Роль неслучайной инактивации Х-хромосомы в формировании преждевременной недостаточности функции яичников

1. Lamp T, Schultz-Lobmeyr I, Obruca A et al. Premature ovarian failure: etiology and prospects. Gynecol Endocrinol 2000; 14: 292–302.
2. Conway GS, Kaltsas G, Jacobs HS. Characterization of idiopatic c premature ovarian saibere. Fertil Steril 1996; 65: 337–41.
3. O`Herlity C, Pepperell RS, Evans SH. The significant of FSH Elevations in young women with disorders of onelction. Brit Med J 1980; 281: 1447–50.
4. Simpson JL. Genetic programming in ovarian development and oogenesis. In Menopause Biology and Pathobiology. eds. R.A.Lobo and J.M.R.Kelsey. 2000; 77–94. London: Academic Press.
5. Simpson JL., Raikovoc A. Ovarian differentiation and gonadal failure. Am J Med 1999; 89: 186–200.
6. Simpson JL. Genetics of female infertility. In: Proceedings of the Conference, Treatment of Infertility: The New frontiers, eds. M.Filicori and C.Flamigni. 1998; 37–52. Boca Raton, FL: Communications Media for Education, Inc.
7. James RS, Coppin D, Dalton P et al. A study of females with deletions of the short arm of the X chromosome. Hum Genet 1998; 102: 507–16.
8. Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 1995; 95: 607–29.
9. Sato К, Uehara S, Hashiyada М et al. Genetic significance of skewed X-chromosome inactivation in premature ovarian failure. Am J Med Genetics 2004; 130 (3): 240–4.
10. Uehara S, Tamura M, Nate M et al. X-chromosome inactivation in the human trophoblast of early pregnancy. J Hum Genet 2000; 45: 119–26.
11. Uehara S, Sato K, Hashiyada M et al. Xchromosome inactivation patterns in 45,X/46,XX mosaics. J Hum Genet 2001; 46: 126–31.
12. Heard E, Clerc P, Avner P. X-chromosome inactivation in mammals. Ann RevGenet 1997; 31: 571–610.
13. Sirianni N, Pereira J, Pillotto R, Hoffinan EP. Rett syndrome: Confirmation of X-linked dominant inheritance, an localization of the gene to Xq28. Am J Hum Genet 1998; 63: 1552–8.
14. Hickey Т, Chandy A, Norman RJ. The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women withinfertility related to polycystic ovary syndrome. J Clin Endocrinol Metabol 2002; 87 (1): 161–5.
15. Lanasa M, Hogge W, Hoffman E. The X chromosome and recurrent spontaneous abortions: The significance of transmanifesting carriers. Am J Hum Genet 1999; 64: 934–8.
16. Uehara S, Hashiyada M, Sato K et al. Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss. Fertil Steril 2001; 76: 908–14.
17. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning. A laboratory manual. 2nd edition. Cold Spring Harbor Laboratory Press. 1989.
18. Chen C, Lamharzi N, Weiss NS et al. Androgen receptor polymorphisms and the incidence of prostate cancer. Cancer Epidemiol Biomarkers Prev 2002; 11 (10): 1033–40.
19. Hodgson S, Chiu D, Polani P. Sexual development of patients with isochromosomes for the long arm of the X-chromosome. Hum Genet 1981; 58: 176–8.
20. Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 1990; 85: 175–83.
21. Villaneuva AL, Rebar RW. Triple X syndrome and premature ovarian failure. Obstet Gynecol 1983; 62 (Suppl.): 705–35.
22. Abir R, Fisch D, Nitke S et al. Morphological study of fully and partially isolated early human follicles. Fertile Steril 2001; 75: 141–6.
23. Hovatta O. Pregnancies in women with Turner’s syndrome. Ann Med 1999; 31: 106–10.
24. Magee AC, Nevin NC, Armstrong MJ et al. Ullrich-Turner syndrome: Seven pregnancies in an apparent 45,X woman. Am J Med Genet 1998; 75: 1–3.
25. Marozzi A, Manfredini E, Tibiletti MG et al. Molecular definition of Xq common-deleted region in patients affected by premature ovatian failure. Hum Genet 2000; 107: 304–11.
26. Powell CM, Taggart RT, Drumhellen TC et al. Molecular and cytogenetic studies on an X; autosome translocation in a patient with premature ovarian failure and review of the literature. Am J Med Genet 1994; 52: 19–26.
27. Speed RM. Heterologous pairing and fertility in humans. In: Gilies CD, etiror. Fertility and chromosome pairing: Recent studies in plants and animals. Frorida: Boca Raton, CRC Press. 1989; p. 1–35.
28. Horsman DT, Dill FJ, McGilivray BC, Kalousek DK. X chromosome aneuploidy in lymphocyte cultures from women with recurrent spontaneous abortions. Am J Med Genet 1987; 61: 471–83.
29. Novinsky GP, Van Dyke DL, Tilley BC et al. The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history. Am J Hum Genet 1990; 46: 11101.
30. Galloway SM, Buckton KE. Aneuploidy and aging: Chromosome studies on a random sample of the population using G-banding. Cetogenet Cell Genet 1978; 20: 78–95.
31. Jacobs PA, Court-Brown WM, Doll R. Distribution of human chromosome counts in relation to age. Nature 1961; 191: 1178–80.
32. Sandberge AA, Cohen MM, Rimm AA, Levin AA. Aneuploidy and age in population survey. Am J Hum Genet 1967; 19: 633–43.
33. Willard HF. The sex chromosomes and X chromosome inactivation. In The Metabolic and Molecular Bases of Inherited Disease. eds. C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle. 2001; 1: 1191–211. New York: McGraw-Hill.
34. Indsto JO, Nassif NT, Kefford RF, Mann GJ. Frequent loss of heterozygosity targeting the inactive X chromosome in melanoma. Clin Cancer Research 2003; 9: 6476–82.
35. Zinn AR, Ross JL. Turner syndrome and haploinsufficiency. Curr Opin Genet Dev 1998; 8: 322–7

Л.А.Марченко, Д.В.Залетаев, З.Г.Габибуллаева, Д.С.Михайленко

ГУ Научный центр акушерства, гинекологии и перинатологии РАМН, 
Медико-генетический научный институт РАМН, 
НИИ Молекулярной медицины при ММА им. И.М.Сеченова, Москва