ANALYSIS OF THE SRY GENE IN TURNER SYNDROME PATIENTS FROM THE REPUBLIC OF MACEDONIA
Papazovska-Cherepnalkovski A, Koceva S, Kocova M*
*Corresponding Author: Mirjana Kocova, M.D., Ph.D., Department of Endocrinology and Genetics, University Pediatric Clinic, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3147-474/+389-70-242-694; Fax: +389-2-3129-027; ?-mail: mirjanakocova@yahoo.com
page: 31

REFERENCES

1. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 1938; 28: 566-574.

      2. Saenger P. Turner's Syndrome. N Engl J Med 1996; 335(23): 1749-1754.

      3. Saenger P, Albertsson Wikland K, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AM, Ranke MB, Rosenfeld R, Silberbach M. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001; 86(7): 3061-3069.

      4. Canto P, de la Chesnaye E, Lopez M, Cervantes A, Chavez B, Vilchis F, Reyes E, Ulloa Aguirre A, Kofman Alfaro S, Mendez JP. A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. J Clin Endocrinol Metab 2000; 85(5):1908-1911.

      5. López M, Canto P, Aguinaga M, Torres L, Cervantes A, Alfaro G, Méndez JP, Kofman-Alfaro S. Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. Am J Med Genet 1998; 76(2): 2120-2124.

      6. Lippe B. Turner syndrome. Endocrinol Metab Clin North Am 1991; 20(1): 121-152.

      7. Binder G, Koch A, Wajs E, Ranke MB. Nested polymerase chain reaction study of 53 cases with Turner’s syndrome: is cytogenetically undetected Y mosaicism common? J Clin Endocrinol Metab 1995; 80(12): 3532-3536.

      8. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner’s syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983; 64(1): 24-27.

      9. Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, Goedde HW. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depends on the presence of two sex chromosomes? Hum Genet 1992; 88(3): 288-294.

      10. Scully RE. Gonadoblastoma. Cancer 1970; 25(6): 1340-1356.

      11. Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987; 25(2): 191-218.

      12. Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: Molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 1995; 57(6): 1400-1407.

      13. Giese K, Cox J, Grosschedl R. The HMG domain of lymphoid enhancer factor 1 bends DNA and facilitates assembly of functional nucleoprotein structures. Cell 1992; 69(1): 185-195.

      14. Harley VR, Jackson DI, Hextall PJ, Hawkins JR, Berkovitz GD, Sockanathan S, Lovell-Badge R, Good­fellow PN. DNA binding activity of recombinant SRY from normal males and XY females. Science1992; 255(5043): 453-456.

      15. Pontiggia A, Whitfield S, Goodfellow PN, Lovell-Badge R, Bianchi MA. Evolutionary conservation in the DNA-binding and -bending properties of HMG boxes from SRY proteins of primates. Gene 1995; 154(2): 277-280.

      16. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. A gene from the sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990; 346(6281): 240-244.

      17. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature 1990; 348(6300): 448-450.

      18. Gubbay J, Collignon J, Koopman P, Capel B, Economou A, Münsterberg A, Vivian N, Goodfellow P, Lovell-Badge R. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 1990; 346(6281): 245-250.

      19. Jäger RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 1990; 348(6300): 452-454.

      20. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature 1991; 351(6322): 117-121.

      21. Kocova M, Siegel SF, Wenger SL, Lee PA, Trucco M. Detection of Y chromosome sequences in Turner’s syndrome by Southern blot analysis of amplified DNA. Lancet 1993; 342(8864): 140-143.

      22. Kocova M, Siegel FS. Detection of Y chromosome sequences in a 45,X/46,XXq-patient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH). Am J Med Genet 1995; 55(4): 483-488.

      23. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S. Construction of human gene libraries from small amounts of peripheral blood: analysis of b-like globin genes. Hemoglobin 1982; 6(1): 27-36.

      24. Efremov GD, Dimovski AJ, Plaseska-Karanfilaska D, Simjanovska L, Sukarova E, Koceva S, Popovski ZT. Isolation of genomic DNA from mammalian cells. Laboratory Manual, 2nd ed. Skopje: Macedonian Academy of Sciences and Arts, RCGEB. 1998:1-3.

      25. Greer CE, Peterson SL, Kiviat NB, Manos MM. PCR amplification from paraffin-embedded tissues. Effects of fixative and fixation time. Am J Clin Pathol 1991; 95(2): 117-124.

      26. Fernandez Garcia R, Garcia Doval S, Costoya S, Pasaro E. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ‘hidden’ mosa­icism. Clin Genet 2000; 58(3): 201-208.

      27. Kocova M, Witchel SF, Nalesnik M, Lee PA, Dickman PS, MacGillivray MH, Reiter EO, Trucco G, Trucco M. Y Chromosomal sequences identified in gonadal tissue of two 45,X patients with Turner syndrome. Endocr Pathol 1995; 6(4): 311-322.

      28. Page DC. Hypothesis: a Y chromosomal gene causes gonadoblastoma in disgenetic gonads. Development 1987; 101(Suppl): 151-155.

      29. Medlej R, Lobaccaro JM, Berta P, Belon C, Leheup B, Toublanc JE, Weill J, Chevalier C, Dumas R, Sultan C. Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endo­crinol Metab 1992; 75(5): 1289-1292.

      30. Yorifuji T, Muroi J, Mamada M, Uematsu A, Kawai M, Momoi T, Kaji M, Yamanaka C, Nakahata T. Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material. J Med Genet 2001; 38(11): E41.

      31. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner Syndrome. J Clin Epidemiol 1998; 51(2): 147-158.          

     32. Gravholt CH, Fedder J, Naeraa RW, Müller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 2000; 85(9): 3199-3202.




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