Rapid Diagnosis of CMT1A Duplications and HNPP Deletions by Multiplex Microsatellite PCR
2007
Choi, B.O. (Ewha Womans University College of Medicine, Seoul, Republic of Korea) | Kim, J.K. (Kongju National University, Kongju, Republic of Korea) | Lee, K.L. (Kongju National University, Kongju, Republic of Korea) | Yu, J.S. (Kongju National University, Kongju, Republic of Korea) | Hwang, J.H. (Kongju National University, Kongju, Republic of Korea) | Chung, K.W. (Kongju National University, Kongju, Republic of Korea), E-mail: [email protected]
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).
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