Polymorphisms in the PMP-22 gene region (17p11.2–12) are crucial for simplified diagnosis of duplications/deletions |
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Authors: | A Haupt Ludger Schöls Horst Przuntek Jörg T Epplen |
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Institution: | Molekulare Humangenetik, Ruhr-Universit?t, D-44780 Bochum, Germany Tel.: +49-234-700-3839; Fax: +49-234-709-4196 e-mail: Andrea.Haupt@rz.ruhr-uni-bochum.de, DE Neurologische Universit?tsklinik im St. Josef Hospital, Bochum, Germany, DE
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Abstract: | DNA duplications and deletions of a 1.5-Mb region in chromosome 17p11.2–12 comprising the gene encoding peripheral myelin
protein 22 (PMP-22) are the common mutations in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability
to pressure palsies (HNPP). A 1.7-kb recombination hotspot region has been identified within misaligned flanking repeats (CMT1-REP
elements) by detection of CMT- and HNPP-specific junction fragments in Southern blot analyses. In order to simplify routine
diagnosis we introduce a polymerase chain reaction-based method to identify directly specific REP junction fragments. Using
this test, specific fragments were detected in ∼ 67% of both CMT duplication and HNPP deletion cases. Polymorphism within
a specific restriction enzyme recognition site is crucial for both Southern blot and PCR analyses of junction fragments.
Received: 25 October 1996 / Revised: 16 December 1996 |
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