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2008, Number 1

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Gac Med Mex 2008; 144 (1)

Diseño de microsondas mediante hibridación virtualpara el estudio de variantes en los sitios REP-CMT1A

Hernández-Zamora E, Arenas-Sordo ML, Maldonado-Rodríguez R

Language: Spanish
References: 32
Page: 1-6
PDF size: 134.14 Kb.


ABSTRACT

Background: Gene PMP22 is duplicated in patients with CMT1A. Duplication is due to an unequal chromatid interchange during meiosis that takes place between two 24 Kb regions named REP-CMT1A proximal and distal sites. Homology is approximately 98%. Within each one of the sites we find zones termed hot spots where a greater number of variants and mutations could give origin to an unequal interchange. The aim of this study was to design a set of probes to create a microarray that could detect the presence of variants and mutation points in distal and proximal REP sites among patients with CMT1A.
Material and methods. With reported sequences of distal andproximal REPs, we determined hot spot sites within proximal anddistal regions. These sequences were aligned and matched, hence12 zones were detected.
Results and conclusions. Twenty four probes were designed and analyzed using the Geno sensor Probe Designer program. Probes could be synthesized and used in a microarray that is able to find variations and mutation points and facilitates diagnosis of patients with CMT1A.


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