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 -