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FISH for Pre-implantation Genetic Diagnosis

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Published on: February 23, 2011

A simplified approach for FSHD molecular testing.

Frantzeskos Papanikos¹, Christina Skoulatou¹, Paraskevi Sakellariou²

¹Laboratory of Analytical Chemistry, Department of Chemistry, Athens University, Athens 15771, Greece.

Clinica Chimica Acta; International Journal of Clinical Chemistry

|December 11, 2013

Summary

A new, simple molecular testing method for facioscapulohumeral muscular dystrophy (FSHD) has been developed. This approach enhances accessibility for FSHD diagnosis in the Greek population.

Keywords:

Biomarkers FSHD Molecular testing

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Area of Science:

Genetics
Molecular Biology
Biomarker Discovery

Background:

Facioscapulohumeral muscular dystrophy (FSHD) genetics involve complex DNA rearrangements in the D4Z4 region.
A proposed FSHD molecular signature includes contracted D4Z4 arrays and specific 4qA haplotypes.
The need for a simplified FSHD testing method was identified to assess its applicability in diverse populations.

Purpose of the Study:

To develop a straightforward molecular testing approach for FSHD.
To evaluate the applicability of the FSHD molecular signature in the Greek population.

Main Methods:

Visual genotyping of 4qA and 10qA haplotypes using a multiplex dipstick assay.
Detection of 4qA161 haplotype in D4Z4 contracted alleles via tri-primer PCR.
Identification of PAS and D4Z4 proximal unit SNPs using tri-primer PCR.

Main Results:

The method successfully analyzed DNA from various sources, including FSHD families, probands, and controls of Greek origin.
The developed assay allows for visual genotyping and specific haplotype detection.
Evaluation included samples representing common 4q and 10q haplotypes.

Conclusions:

The proposed method offers a valuable tool for FSHD testing.
This approach increases the accessibility of FSHD diagnostics for laboratories and the patient community.