New Polymorphic Short Tandem Repeats for PCR-based Charcot-Marie-Tooth Disease Type 1A Duplication Diagnosis

(CMT1A) accounts for 70–90 % of cases of CMT1 and is most frequently caused by the tandem duplication of a 1.4-Mb genomic fragment on chromosome 17p12. Mo-lecular diagnosis of CMT1A has been based primarily on pulsed-field electrophoresis, fluorescence in situ hybridization, polymorphic allele dosage analysis, and quantitative PCR. We sought to improve the fidelity and applicability of PCR-based diagnosis by developing a panel of novel, highly polymorphic short tandem re-peats (STRs) from within the CMT1A duplicated region. Methods: We used a recently available genomic se-quence to identify potentially polymorphic simple re-peats. We then amplified these sequences in a multieth-nic cohort of unaffected individuals and assessed the heterozygosity and number of alleles for each STR