Rapid Diagnosis of CMT1A Duplications + HNPP Deletions by Multiplex Microsatelli

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Mol Cells. 2007 Feb 28;23(1):39-48.

Rapid Diagnosis of CMT1A Duplications and HNPP Deletions by

Multiplex Microsatellite PCR.

Choi BO, Kim J, Lee KL, Yu JS, Hwang JH, Chung KW.

Department of Biological Science, Kongju National University, Gongju

314-701, Korea.

Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with

liability to pressure palsies (HNPP) are frequent forms of

genetically heterogeneous peripheral neuropathies. Reciprocal

unequal crossover between flanking CMT1A-REPs on chromosome 17p11.2-

p12 is a major cause of CMT type 1A (CMT1A) and HNPP.

The importance of a sensitive and rapid method for identifying the

CMT1A duplication and HNPP deletion is being emphasized.

In the present study, we established a molecular diagnostic method

for the CMT1A duplication and HNPP deletion based on hexaplex PCR of

6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S918, D17S4A

and D17S2230).

The method is highly time-, cost- and sample-saving because the six

markers are amplified by a single PCR reaction and resolved with a

single capillary in 3 h. Several statistical and forensic estimates

indicated that most of these markers are likely to be useful for

diagnosing the peripheral neuropathies.

Reproducibility, as determined by concordance between independent

tests, was estimated to be 100 & percnt;. The likelihood that

genotypes of all six markers are homozygous in randomly selected

individuals was calculated to be 1.6 & #61620; 10 & #61485;4, which

indicates that the statistical error rate for this diagnosis of HNPP

deletion is only 0.016 & percnt.