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

Jan Gowth Chang, Yuh Jyh Jong, Wen Pin Wang, Jyh Chwan Wang, Chaur Jong Hu, Man Chi Lo, Chih Peng Chang

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Abstract

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.

Original languageEnglish
Pages (from-to)270-274
Number of pages5
JournalClinical Chemistry
Volume44
Issue number2
Publication statusPublished - 1998
Externally publishedYes

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ASJC Scopus subject areas

  • Clinical Biochemistry

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Chang, J. G., Jong, Y. J., Wang, W. P., Wang, J. C., Hu, C. J., Lo, M. C., & Chang, C. P. (1998). Rapid detection of a recombinant hotspot associated with Charcot-Marie- Tooth disease type 1A duplication by a PCR-based DNA test. Clinical Chemistry, 44(2), 270-274.