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Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue

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주제분류소아과학

초록

Purpose: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction.Methods: DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used.Results: We found 14 patients (12.8%) with positive molecular markers for the Y chromosome. The study of tissues of different embryological origin showed the same degree of agreement, sensitivity, and specificity.Conclusion: Oral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost.

Abstract

Purpose: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction.Methods: DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used.Results: We found 14 patients (12.8%) with positive molecular markers for the Y chromosome. The study of tissues of different embryological origin showed the same degree of agreement, sensitivity, and specificity.Conclusion: Oral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost.

참고문헌 (31)

  1. Turner HH, "A Syndrome of infantilism, congenital webbed neck, and cubitus valgus", Endocrinology, 23, pp.566~574 (1938)
  2. Daggag H, "Analysis of Turner syndrome patients within the Jordanian population, with a focus on four patients with Y chromosome abnormalities", Sex Dev, 7, pp.295~302 (2013)
  3. Canto P, "Gonadoblastoma in Turner syndrome patients with nonmosaic 45, X karyotype and Y chromosome sequences", Cancer Genet Cytogenet, 150, pp.70~72 (2004)
  4. Sallai A, "Y-chromosome markers in Turner syndrome : Screening of 130 patients", J Endocrinol Invest, 33, pp.222~227 (2010)
  5. Hook EB, "Exclusion of chromosomal mosaicism : tables of 90%, 95% and 99% confidence limits and comments on use", Am J Hum Genet, 29, pp.94~97 (1977)
  6. Larsen T, "Parental origin of the X chromosome, X chromosome mosaicism and screening for"hidden"Y chromosome in 45, X Turner syndrome ascertained cytogenetically", Clin Genet, 48, pp.6~11 (1995)
  7. Medlej R, "Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome", J Clin Endocrinol Metab, 75, pp.1289~1292 (1992)
  8. Vollrath D, "The human Y chromosome : a 43-interval map based on naturally occurring deletions", Science, 258, pp.52~59 (1992)
  9. Chu CE, "Detection of Y mosaicism in patients with Turner's syndrome", J Med Genet, 32, pp.578~580 (1995)
  10. Henegariu O, "Multiplex PCR : critical parameters and step-by-step protocol", Biotechniques, 23, pp.504~511 (1997)
  11. Elnifro EM, "Multiplex PCR : optimization and application in diagnostic virology", Clin Microbiol Rev, 13, pp.559~570 (2000)
  12. Butler E, "Genetic Markers for Sex Identification in Forensic DNA Analysis", J Forensic Investig, 2, pp.1~10 (2014)
  13. Barbosa LG, "Y Chromosome sequences in Turner syndrome : multiplex PCR, a new method for diagnosis", J Genet Genome Res, 7, pp.052~ (2020)
  14. Kizys MM, "Optimizing nucleic acid extraction from thyroid fine-needle aspiration cells in stained slides, formalin-fixed", paraffin-embedded tissues, and longterm stored blood samples, 2012, pp.56, 618~626
  15. Mendes JR, "Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism", Clin Endocrinol(Oxf), 50, pp.19~26 (1999)
  16. Araujo C, "Molecular identification of chromosome Y sequences in Brazilian patients with Turner syndrome", Gynecol Endocrinol, 24, pp.713~717 (2008)
  17. Bianco B, "SRY gene increases the risk of developing gonadoblastoma and", or nontumoral gonadal lesions in Turner syndrome, 2009, pp.28, 197~202
  18. Rojek A, "Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome", Sex Dev, 11, pp.254~261 (2017)
  19. Gravholt CH, "Clinical practice guidelines for the care of girls and women with Turner syndrome:proceedings from the 2016 Cincinnati International Turner Syndrome Meeting", Eur J Endocrinol, 177, pp.G1~G7 (2017)
  20. Miclea DL, "Y chromosome in Turner syndrome and FISH technique usefulness in cytogenetic diagnosis", Rev Romana de Medicina de Lab, 20, pp.327~333 (2012)
  21. Hanson L, "Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material : a correlation between oral epithelial cells, lymphocytes and ovarian tissue", Hereditas, 137, pp.1~6 (2002)
  22. Knauer-Fischer S, "Analyses of Gonadoblastoma Y(GBY)-locus and of Y centromere in Turner syndrome patients", Exp Clin Endocrinol Diabetes, 123, pp.61~65 (2015)
  23. Scully RE, "Gonadoblastoma. A review of 74 cases", Cancer, 25, pp.1340~1356 (1970)
  24. Bianco B, "Clinical implications of the detection of Y-chromosome mosaicism in Turner's syndrome : report of 3 cases", Fertil Steril, 90, pp.1197~ (2008)
  25. Saenger P, "Clinical review 48 : The current status of diagnosis and therapeutic intervention in Turner's syndrome", J Clin Endocrinol Metab, 77, pp.297~301 (1993)
  26. Quilter CR, "Cytogenetic and molecular investigations of Y chromosome sequences and their role in Turner syndrome", Ann Hum Genet, 62(Pt 2), pp.99~106 (1998)
  27. Robinson DO, "A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome", J Med Genet, 36, pp.279~284 (1999)
  28. Nazarenko SA, "High frequency of tissue-specific mosaicism in Turner syndrome patients", Clin Genet, 56, pp.59~65 (1999)
  29. Canto P, "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, 85, pp.1908~1911 (2000)
  30. Freriks K, "Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome", Eur J Med Genet, 56, pp.497~501 (2013)
  31. "Acta Med Port", 2002, 89~100

관련 논문AI추천

Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene이경희, 이호창, 정은환, 한헌석, Jae-Yeop Jung, Sohyoung Yang, Yong Moon Lee대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2015 · 제20권 제4호Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene양소형, 이경희, 이영문, 이호창, 정은환, 정재엽, 한현석대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2016 · 제21권 제3호Turner 증후군 환자에서 분자유전학적 방법을 이용한 Y 염색체의 증명김혜란, 신정환, 이정녀, 정우영대한진단검사의학회 · Annals of Laboratory Medicine2006 · 제26권 제2호Diagnostic and therapeutic considerations in Turner syndrome양승대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2017 · 제22권 제4호터너 증후군에서 FISH (Fluorescence in Situ Hybridization)법을 이용한 숨겨진 Y 염색체의 존재 유무 및표적 염색체의 기원 규명권자영, 신종승, 양영호, 양은석, 한상원대한산부인과학회 · Obstetrics & Gynecology Science2004 · 제47권 제5호No influence of parental origin of intact X chromosome and/or Y chromosome sequences on three-year height response to growth hormone therapy in Turner syndrome김재현, 김지현, 김화영, 신충호, 양세원, 이경민, 이선희, 이영아, 이혜진, 정혜운대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2014 · 제19권 제3호

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