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Clinical Chemistry 44: 270-274, 1998;
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(Clinical Chemistry. 1998;44:270-274.)
© 1998 American Association for Clinical Chemistry, Inc.

Molecular Pathology and Genetics

Rapid detection of a recombinant hotspot associated with Charcot–Marie–Tooth disease type 1A duplication by a PCR-based DNA test

Jan-Gowth Chang1,5,a, Yuh-Jyh Jong2, Wen-Pin Wang3, Jyh-Chwan Wang1,5, Chaur-Jong Hu4, Man-Chi Lo6, and Chih-Peng Chang5

1 Division of Molecular Medicine, Department of Medical Research, Mackay Memorial Hospital, 92, Sec. 2, Chung Shan N. RD., Taipei, Taiwan.

2 Division of Pediatric Neurology, Kaohsiung Medical College, Kaohsiung, Taiwan.

3 Department of Molecular Biology, Tzu-Chi College of Medicine, Hualien, Taiwan.
Departments of
4 Neurology and
5 Molecular Medicine, Taipei Municipal Jen-Ai Hospital, Taipei, Taiwan.

6 Department of Neurology, Changhua Christian Hospital, Changhua, Taiwan.
a Address correspondence to this author at the first address given. Fax 886-2-704-6952; e-mail f1037437{at}ms8.hinet.net.

A 1.5-Mb duplication on chromosome 17p11.2-p12 (CMT1A duplication) caused by a misalignment of the CMT1A repeat sequences (CMT1A-REPs) is associated with Charcot–Marie–Tooth disease type 1A (CMT1A). A hotspot of crossover breakpoints located in a 3.2-kb region of the CMT1A-REPs accounts for three-quarters of the rearrangements in CMT1A patients. We developed a PCR-based diagnostic method to detect a recombination hotspot associated with the CMT1A duplication. Thirty-one CMT1A Chinese patients from different families and 50 healthy people over 65 years of age were studied. Twenty-seven of the 31 cases demonstrated the 3.2-kb hotspot crossover, of which there were two subgroups. The type 1 crossover breakpoint was located at the distal CMT1A-REP around the PmeI site, and accounted for 24 of the 27 cases with a 3.2-kb hotspot crossover in CMT1A duplication patients. The type 2 crossover breakpoint was located at the distal CMT1A-REP around the base 3625 region, accounting for 3 of the 27 cases. The results correlated very well with the results of Southern transfer analysis. This study has a potentially important role in the diagnosis of CMT1A disease.




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 Genome ResHome page
K. Inoue, K. Dewar, N. Katsanis, L. T. Reiter, E. S. Lander, K. L. Devon, D. W. Wyman, J. R. Lupski, and B. Birren
The 1.4-Mb CMT1A Duplication/HNPP Deletion Genomic Region Reveals Unique Genome Architectural Features and Provides Insights into the Recent Evolution of New Genes
Genome Res., June 1, 2001; 11(6): 1018 - 1033.
[Abstract] [Full Text] [PDF]


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Copyright © 1998 by the American Association for Clinical Chemistry.