(mentions CMT) US Patent 7,638,308. Diagnosis method and kits for inherited neur

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US Patent 7,638,308. Diagnosis method and kits for inherited neuropathies caused

by duplication or deletion of chromosome 17p11.2-p12 region.

Inventors: Byung Ok Choi; Ki Wha Chung.

Assignee: Kongju National University Industry Academia ation Group.

The patent describes a method and kit for diagnosing two hereditary diseases —

Charcot-Marie-Tooth disease, type 1A, and hereditary neuropathy with liability

to pressure palsies — that are caused by duplication and deletion in the

chromosome 17p11.2-p12 region. The patent protects a method for detecting an

inherited neuropathy based on running a PCR amplification using microsatellites

present in the chromosome 17p11.2-p12 region as markers and DNA typing the

resulting PCR amplification products to determine the presence of duplication

and deletion in the corresponding chromosomal region. " Multiplex PCR

amplification is carried out using 6 loci of D17S921, D17S9B, D17S9A, D17S918,

D17S2230 and D17S4A as markers, and DNA-typing of the resulting PCR

amplification products is carried out to determine duplication and deletion in

the corresponding chromosomal region, " the abstract states.