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THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY

Yıl 2000, Cilt: 13 Sayı: 1, 7 - 10, 03.12.2016

Öz

Objective: The aim of this study was to optimize the diagnosis of the fragile X syndrome in six large families with fragile X syndrome in Turkey.
Methods: Southern blot analysis was performed to identify the mutations of the FMR 1 gene localized on FRAXA locus using StB12.3 probe among 36 members (19 males, 17 females) of fragile X families and controls (8 males, 8 females) following cytogenetic analysis by fragile X induction methods.
Results: Eleven males and 9 females had full mutations, while 7 males and 3 females had normal range of CGG repeats. One female who was found positive by cytogenetic analysis had mosaic mutation (Y2[ll-3] with 6.0, 5.2, 2.8 kb fragment sizes). Five females had premutations and 1 male had atypical fragment pattern.
Conclusion: We suggest that, diagnosis of fragile X syndrome is not possible only by cytogenetic analysis. For appropriate counseling it is recommended that all members of the fragile X family under risk should be screened both by cytogenetic and molecular methods.
Key Words: Fragile X syndrome, DNA analysis, Mosaicism, StB12,3 probe.

Kaynakça

  • Murray A, Youings S, Dennis H, et a!. Population screening at FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996;5:727-735.
  • Turner G, Webb T, Wake S, Robinson H. Prevalence of fragüe X syndrome. Am J Med Genet 1996:64: 196-197.
  • Verkerk AJMH, Pieretti M. Sutcliffe JS, et al. Identification of a gene (FMR-I) containing a CGG repeats coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-914.
  • Yu S, Pntchard M, Kremer E, et at The fragile X genotype characterized by an unstable region of DHA. Science 1991;252:1179-1181.
  • Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DHA analysis of the fragile X syndrome of mental retardation. H Engl J Med 1991:325: 1673-1681.
  • Oberlé 1. Rousseau F, Heitz D, et al. Instability of 550-base pair DHA segment and abnormal methylation in fragile X syndrome. Science 1991; 252:1097-1102. .
  • Kremer EJ, Pritchard M, Lynch M, et at Mapping of DHA instability at the fragüe X to a trinucleotide repeat sequence p(CCG)n. Science 1991;252: 1711-1714.
  • Fu YH, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X locus results in genetic instability: resolution of the sherman paradox. Cell 1991:67:1047-1058.
  • MUá M, Castellvi-Bel S, Sanchéz A, Lázaro C, Villa M, Estivil X. Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. J Med Genet 1996;33:338-340.
  • Rousseau F, Heitz D, Tarleton J, et al. a multicenter study on genotype-phenotype correlations in the
  • fragile X syndrome, using direct diagnosis with probe StB12.3: The First 2,253 cases. Am J Hum Genet 1994;55:225-237.
  • Sherman 5L, Morton HE, Jacobs PA, Turner G. The marker (X) syndrome: a cytogenetic and genetic analysis. Ann Hum Genet 1984:48:21 -37.
  • Perroni L, Grasso M, Argusti A, et al. Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families. Am J Hum Genet 1996,64. 1 76-180.
  • Milâ M, Kruyer H, Glover G, et al. Molecular analysis of the (CGG)n expension in the FMR-I gene in 59 Spanish fragile X syndrome families. Hum Genet 1994;94:395-400.
  • Keser İ, Lüleci G, Keskin V. Cytogenetic studies among mentally retarded children attending to special classes of MEBARAM in Antalya Province. Marmara Med J 1998; 11:201-203.
  • Lüleci G, Bagci G, Büyükberker E, Tacoy S, Tuncbilek E, Yegin O. Fragile (X) syndrome among mentally retarded children. App Cytogenet 1993; 19:81-86.
  • Miller 5/1, Dykes DD, Polesky HF. A simple salting out procedure for extracting DHA from human nucleated cells. Hucleic Acids Research 1988,16: 1215.
  • I 7. De Graaff E, Rovillard P, Willems PJ, Smits APT, Rousseau F. Oostr BA. Hotspot for deletions in the CGG repeat of FMRI in fragile X patients. Hum Mol Genet 1995;4:45-49.
  • Mecpherson J, Harvey J, Curtis G, et at. A reinvestigation of thirty three fragile (X) families using probe StB12.3. Am J Hum Genet I992;43: 905-912.
  • Tejada 1, Mornet E, Biancalana V, et al. Direct DHA analysis of fragile X syndrome in Spanish pedigrees. Am J Med Genet 1992;43:282-290.
  • Hirst M, Grewal P, Flannery A, et al. Two new cases of FMR1 deletion associated with mental impairment. Am J Hum Genet 1995:56:67-74.
Yıl 2000, Cilt: 13 Sayı: 1, 7 - 10, 03.12.2016

Öz

Kaynakça

  • Murray A, Youings S, Dennis H, et a!. Population screening at FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996;5:727-735.
  • Turner G, Webb T, Wake S, Robinson H. Prevalence of fragüe X syndrome. Am J Med Genet 1996:64: 196-197.
  • Verkerk AJMH, Pieretti M. Sutcliffe JS, et al. Identification of a gene (FMR-I) containing a CGG repeats coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-914.
  • Yu S, Pntchard M, Kremer E, et at The fragile X genotype characterized by an unstable region of DHA. Science 1991;252:1179-1181.
  • Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DHA analysis of the fragile X syndrome of mental retardation. H Engl J Med 1991:325: 1673-1681.
  • Oberlé 1. Rousseau F, Heitz D, et al. Instability of 550-base pair DHA segment and abnormal methylation in fragile X syndrome. Science 1991; 252:1097-1102. .
  • Kremer EJ, Pritchard M, Lynch M, et at Mapping of DHA instability at the fragüe X to a trinucleotide repeat sequence p(CCG)n. Science 1991;252: 1711-1714.
  • Fu YH, Kuhl DPA, Pizzuti A, et al. Variation of the CGG repeat at the fragile X locus results in genetic instability: resolution of the sherman paradox. Cell 1991:67:1047-1058.
  • MUá M, Castellvi-Bel S, Sanchéz A, Lázaro C, Villa M, Estivil X. Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. J Med Genet 1996;33:338-340.
  • Rousseau F, Heitz D, Tarleton J, et al. a multicenter study on genotype-phenotype correlations in the
  • fragile X syndrome, using direct diagnosis with probe StB12.3: The First 2,253 cases. Am J Hum Genet 1994;55:225-237.
  • Sherman 5L, Morton HE, Jacobs PA, Turner G. The marker (X) syndrome: a cytogenetic and genetic analysis. Ann Hum Genet 1984:48:21 -37.
  • Perroni L, Grasso M, Argusti A, et al. Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families. Am J Hum Genet 1996,64. 1 76-180.
  • Milâ M, Kruyer H, Glover G, et al. Molecular analysis of the (CGG)n expension in the FMR-I gene in 59 Spanish fragile X syndrome families. Hum Genet 1994;94:395-400.
  • Keser İ, Lüleci G, Keskin V. Cytogenetic studies among mentally retarded children attending to special classes of MEBARAM in Antalya Province. Marmara Med J 1998; 11:201-203.
  • Lüleci G, Bagci G, Büyükberker E, Tacoy S, Tuncbilek E, Yegin O. Fragile (X) syndrome among mentally retarded children. App Cytogenet 1993; 19:81-86.
  • Miller 5/1, Dykes DD, Polesky HF. A simple salting out procedure for extracting DHA from human nucleated cells. Hucleic Acids Research 1988,16: 1215.
  • I 7. De Graaff E, Rovillard P, Willems PJ, Smits APT, Rousseau F. Oostr BA. Hotspot for deletions in the CGG repeat of FMRI in fragile X patients. Hum Mol Genet 1995;4:45-49.
  • Mecpherson J, Harvey J, Curtis G, et at. A reinvestigation of thirty three fragile (X) families using probe StB12.3. Am J Hum Genet I992;43: 905-912.
  • Tejada 1, Mornet E, Biancalana V, et al. Direct DHA analysis of fragile X syndrome in Spanish pedigrees. Am J Med Genet 1992;43:282-290.
  • Hirst M, Grewal P, Flannery A, et al. Two new cases of FMR1 deletion associated with mental impairment. Am J Hum Genet 1995:56:67-74.
Toplam 21 adet kaynakça vardır.

Ayrıntılar

Bölüm Original Research
Yazarlar

İbrahim Keser Bu kişi benim

Güven Lüleci Bu kişi benim

Mualla Alkan Bu kişi benim

Yayımlanma Tarihi 3 Aralık 2016
Yayımlandığı Sayı Yıl 2000 Cilt: 13 Sayı: 1

Kaynak Göster

APA Keser, İ., Lüleci, G., & Alkan, M. (2016). THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY. Marmara Medical Journal, 13(1), 7-10.
AMA Keser İ, Lüleci G, Alkan M. THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY. Marmara Med J. Haziran 2016;13(1):7-10.
Chicago Keser, İbrahim, Güven Lüleci, ve Mualla Alkan. “THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY”. Marmara Medical Journal 13, sy. 1 (Haziran 2016): 7-10.
EndNote Keser İ, Lüleci G, Alkan M (01 Haziran 2016) THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY. Marmara Medical Journal 13 1 7–10.
IEEE İ. Keser, G. Lüleci, ve M. Alkan, “THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY”, Marmara Med J, c. 13, sy. 1, ss. 7–10, 2016.
ISNAD Keser, İbrahim vd. “THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY”. Marmara Medical Journal 13/1 (Haziran 2016), 7-10.
JAMA Keser İ, Lüleci G, Alkan M. THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY. Marmara Med J. 2016;13:7–10.
MLA Keser, İbrahim vd. “THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY”. Marmara Medical Journal, c. 13, sy. 1, 2016, ss. 7-10.
Vancouver Keser İ, Lüleci G, Alkan M. THE RESULTS OF MOLECULAR AND CYTOGENETIC ANALYSIS IN 6 FAMILIES WITH FRAGILE - X SYNDROME IN TURKEY. Marmara Med J. 2016;13(1):7-10.