생명과학회지 (Journal of Life Science)

  • 제9권6호
  • /
  • Pages.704-708
  • /
  • 1999
  • /
  • 1225-9918(pISSN)
  • /
  • 2287-3406(eISSN)
한국생명과학회 (Korean Society of Life Science)
권호 표지

항체 검사에 의한 Fragile X 증후군의 진단

Diagnosis of Fragile X Syndrome by Antibody Test

  • 김강영 (대구효성가톨릭대학교 생물학과) ;
  • 윤인숙 (대구과학대학교 임상병리학과) ;
  • 김종봉 (대구효성가톨릭대학교 생물학과) ;
  • 진동규 (삼성의료원 소아과)
  • 발행 : 1999.12.01
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

This research was carried out for evaluating diagnostic value of antibody test in Fragile X syndrome. In antibody test of control individuals and carriers with a premutation, FMRP were detected in the lymphocytes, whereas the lymphocytes of male Fragile X syndrome patients were devoid of FMRP. Five Fragile X syndrome male patient, two Fragile X syndrome female patients, three carriers were diagnosed by southern blot. Five boys who were diagnosed as the patients by antibody test were turned out full mutation and having multiple smear beside normal single band. However, fragile site of X chromosome was not expressed in Fragile X syndrome patients by chromosome analysis. These results showed that antibody test was a fast and simple method, but the diagnostic power was "perpect" for males, whereas the results were less specific for females.r females.

키워드

참고문헌

  1. Cell v.67 Variation of the CGG repeat at the fragile site results in genetic instality resolution of the Sherman paradox Fu, Y. H.;Kuhl, D. P. A.;Pizzuti, A.;Pieretti, M.;Sutelifte, J. S.;Richards, S.;Verkerk, A. J. M. H.
  2. Am J Med Genet. v.38 The Fragile X cheklist Hagerman, R. J.;Amiri, K.;Cronister, A.
  3. Science Isolation of sequences that span the Fragile X - related CpG island Heitz, D.;Rousseau, F.;Devys, D.Saccone, S.;Abderrahim, H.;Le Paslier, D.
  4. Nature Genet. v.12 The Fragile X mental retardation protein is associated with ribosomes Khandjian, E.;Corbin, F.;Woerly, S.;Rousseau, F.
  5. Science v.252 Mapping of DNA instability at the Fragile X to a trinucleotide repeat sequence p(CGG)n Kremer, E. J.;Pritchard, M.;Lynch, M.
  6. Ann. Rev. Genet. v.20 Fragite X syndrome : a unique mutation in Man Nussbaum, R. L.;Ledbetter, D. H.
  7. Cell v.66 Absence of expression of the FMR-1 gene in fragile X syndrome Pieretti, M.;Zhang, F.;Fu, Y. H.
  8. New Eng. J. Med. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation Rousseau, F.;Hietz, D.;Biancalana, V.
  9. Am. J. Hum. Genet. v.53 Analysis of a CGG Sequence at FMR-1 locus in fragile X families and in the general population Snow, K.;Doud, L. K.;Hangerman, R.;Pergolizzi, R. G.;Erster, S. H.;Thibodeau, S. N.
  10. Clin. Genet. v.37 The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X Sutherland, G. R.;Baker, E.
  11. Hum. Mol. Genet. v.1 Characterization of a new rare fragile site easily confused with the fragile X Sutherland, G. R.;Baker, E.
  12. Am. J. Med. Genet. v.22 Excess thymidine induces folate sensitive fragile sites Sutherland, G. R.;Baker, E.;Fratini, A.
  13. Lancet v.338 Hereditary unstable DNA : a new explanation for some old genetic question ? Sutherland, G. R.;E. A. Haan;E. Kremer;M. Lynch;M. Pritchard;S. Yu;R. Richards
  14. J. Pediatr. v.122 Molecular genetic advances in Fragile X syndrome Tarlton, J. C.;Sanl. R. A.
  15. J. Pediatr. v.96 X-linked mental retardation, macroorchidism, and the Xq27 fragile site Turner, G. A.;Frost, D. M.
  16. Cell v.65 Identification of a gene(FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome Verkek, A. J. M. H.;Pieretti, M.;Sutcliffe, J. S.
  17. Jama v.271 Advances in molecular analysis of fragile X syndrome Warren, S. T.;Nelson, D. L.
  18. The fragile X syndrome The epidermalogy of fragile X syndrome Webb, T.
  19. The Lancet v.345 Rapid antibody test for Fragile X syndrome Willemsen, R. S.;Mohkamsing, B.;DeVries, D.;Deveys, A.;J. L. Mendel