Diagnosis of the MartinBell Syndrome Based
on Structural and Functional Alterations
in the 5'-Untranslated Region of the FMR1 Gene

V. V. Strelnikov, M. V. Nemtsova, G. G. Chesnokova, N. P. Kuleshov, and D. V. Zaletaev

Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478 Russia;
E-mail: zalnem@glas.apc.org

Received April 11, 1998

Abstract—Fragile X or Martin–Bell syndrome (MBS) is the most frequent form of hereditary mental retarda-
tion. The primary molecular defects are CGG repeat expansion in the first exon and methylation of the CpG
island of the FMR1 gene, which suppress production of FMRP. Methods of DNA diagnosis and screening for
MBS elaborated within the recent seven years allow efficient detection of either defect. However, the methods
are rather time- and labor-consuming or expensive. A new PCR-based method was proposed for the analysis of
methylation in the FMR1 promoter. Advantages and prospects of using this method in the examination of var-
ious groups of people are discussed.

Key words: DNA methylation, PCR, CGG repeat expansion, prenatal diagnosis, screening, Martin–Bell syn-
drome

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