CMT 1A: Duplication analysis in Turkish CMT 1A patients using short tandem repea

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Int J Neurosci. 2007 Nov;117(11):1611-9.

Duplication analysis in Turkish charcot-marie-tooth type 1a patients

using short tandem repeat markers.Koç F, Güzel AI, Sarica Y, Kasap H.

Departments of Neurology, Cukurova University Medical School, Adana,

Turkey.

Charcot-Marie-Tooth (CMT) is a common inherited peripheral

neuropathy with a prevalence of 1 in 2,500. CMT has two distinct

forms (CMT1 and CMT2) that can be identified electrophysiologically.

A 1.5 Mb tandem microduplication including peripheral myelin protein

22 gene (PMP22) on chromosome 17p11.2-12 causes CMT1A. The increased

gene dosage effect of PMP22 is thought to be responsible for the

pathogenesis of CMT1A.

In this study, 39 Turkish CMT1A patients and 60 unrelated control

samples had been examined for the duplication using polymorphic

short tandem repeat (STR) markers. Seven STR marker sites (AC005838-

4A-, AC0013248-9A-, AC0013248-9B-, D17S2218, D17S2220, D17S2227, and

D17S2229) on the duplicated region were amplified via polymerase

chain reaction, electrophoresed through 8% polyacrilamide gel and

evaluated for the duplication.

The rate of duplication was 92.3' (36/39) in the patients whereas it

was zero in the control samples. Allele distributions, number of

alleles and heterozygosity values of more informative markers

(D17S2218, D17S2220, D17S2227, and D17S2229) were assessed. It is

found that approximately 85% of duplications in Turkish CMT1A

patients were depicted by using D17S2220 and D17S2229 markers

together.