CMT 1A + HNPP quick diagnosis test - Research from Korea

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Abstract from Journal of Korean Medical Science. 2003 Oct;18(5):727-732.

Rapid Detection of Duplication/Deletion of the PMP22 Gene in Patients

with Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy with

Liability to

Pressure Palsy by Real-time Quantitative PCR using SYBR Green I Dye.

Kim SW, Lee KS, Jin HS, Lee TM, Koo SK, Lee YJ, Jung SC.

Division of Genetic Disease, Department of Biomedical Science, National

Institute of Health, Seoul, Korea.

Mutations and altered gene dosage of the peripheral myelin protein

(PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary

neuropathies, accounting for approximately 70% of all cases. Patients

with duplication of the PMP22 develop

Charcot-Marie-Tooth disease type 1A (CMT1A) and deletion of one PMP22

allele leads to hereditary neuropathy with liability to pressure palsy

(HNPP).

Twenty patients with CMT1A, 17 patients with HNPP, and 18 normal family

members and 28 normal controls were studied by real-time quantitative

PCR using SYBR Green I on the ABI 7700 Sequence Detection System. The

copy number of the PMP22 gene was determined by the comparative

threshold cycle method and the albumin was used as a reference gene. The

PMP22 duplication ratio ranged from 1.45 to 2.06 and the PMP22 deletion

ratio ranged from

0.42 to 0.64. The PMP22 ratio in normal controls, including normal

family members, ranged from 0.85 to 1.26. No overlap was found between

patients with CMT1A or patients with HNPP and normal controls. This

method is fast, highly sensitive, specific, and reproducible

in detecting PMP22 duplication and deletion in CMT1A and HNPP patients,

respectively.