Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Method for the Molecular Cytogenetic Visualization of Fragile Site FRAXA. / Bobokova, T. S.; Lemskaya, N. A.; Kolesnikova, I. S. и др.
в: Molekuliarnaia biologiia, Том 51, № 4, 01.07.2017, стр. 704-709.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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TY - JOUR
T1 - Method for the Molecular Cytogenetic Visualization of Fragile Site FRAXA
AU - Bobokova, T. S.
AU - Lemskaya, N. A.
AU - Kolesnikova, I. S.
AU - Yudkin, D. V.
PY - 2017/7/1
Y1 - 2017/7/1
N2 - Fragile X syndrome is one of the most common reasons for human hereditary mental retardation. It is associated with the expansion of CGG repeats in the 5'-untranslated region of the FMR1 gene, which results in the suppression of its expression and the development of the disease. At present, methods based on PCR and Southern blot analysis are used for diagnostics of the fragile X syndrome. The presence of a fragile site FRAXA on the X chromosome is typical for patients with this pathology. We developed a method of visualizing this site in cell cultures obtained from patients using the fluorescent in situ hybridization (FISH) and the combination of two probes. The method allows one to detect five types of signals on the X chromosome, three of which are normal, while two are associated with the emergence of fragile site FRAXA. An analysis of the distribution of all signal types in cell lines from healthy individuals and patients with fragile X syndrome demonstrated that the method allows one to determine differences between lines with a high statistical significance and that it is applicable to detecting cells that are carriers of the syndrome.
AB - Fragile X syndrome is one of the most common reasons for human hereditary mental retardation. It is associated with the expansion of CGG repeats in the 5'-untranslated region of the FMR1 gene, which results in the suppression of its expression and the development of the disease. At present, methods based on PCR and Southern blot analysis are used for diagnostics of the fragile X syndrome. The presence of a fragile site FRAXA on the X chromosome is typical for patients with this pathology. We developed a method of visualizing this site in cell cultures obtained from patients using the fluorescent in situ hybridization (FISH) and the combination of two probes. The method allows one to detect five types of signals on the X chromosome, three of which are normal, while two are associated with the emergence of fragile site FRAXA. An analysis of the distribution of all signal types in cell lines from healthy individuals and patients with fragile X syndrome demonstrated that the method allows one to determine differences between lines with a high statistical significance and that it is applicable to detecting cells that are carriers of the syndrome.
KW - chromosome fragility
KW - fluorescent in situ hybridization
KW - FMR1
KW - fragile X syndrome
KW - FRAXA
KW - mental retardation
KW - 5' Untranslated Regions
KW - Cell Line, Transformed
KW - Chromosome Fragile Sites
KW - Chromosomes, Human, X/chemistry
KW - DNA Methylation
KW - Female
KW - Fragile X Mental Retardation Protein/genetics
KW - Fragile X Syndrome/diagnosis
KW - Gene Expression
KW - Humans
KW - In Situ Hybridization, Fluorescence/methods
KW - Male
KW - Promoter Regions, Genetic
KW - Trinucleotide Repeats
UR - http://www.scopus.com/inward/record.url?scp=85044198651&partnerID=8YFLogxK
U2 - 10.7868/S0026898417040061
DO - 10.7868/S0026898417040061
M3 - Article
C2 - 28900090
AN - SCOPUS:85044198651
VL - 51
SP - 704
EP - 709
JO - Molekulyarnaya Biologiya
JF - Molekulyarnaya Biologiya
SN - 0026-8984
IS - 4
ER -
ID: 12178577