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Title
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Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the gene
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Author
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Abstract
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| Charcot-Marie-Tooth type 1 (CMT1) disease or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most CMT1 families, the disease cosegregates with a 1.5-Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with mutations in the peripheral myelin protein 22 (PMP-22) gene located in the CMT1A region. In other families mutations have been identified in the major peripheral myelin protein P-0 gene localized on chromosome 1q21-q23 (CMT1B). We performed a rapid mutation screening of the PMP-22 and P-0 genes in non-duplicated CMT1 patients by single-strand conformation polymorphism analysis followed by direct polymerase chain reaction sequencing of ge nomic DNA. Six new single base changes in the P-0 gene were observed: two missense mutations in, respectively, exons 2 and 3, two nonsense mutations in exon 4, and two silent mutations or polymorphisms in, respectively, exons 3 and 6. |
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Language
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English
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Source (journal)
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Human genetics. - Berlin
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Publication
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Berlin
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1994
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ISSN
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0340-6717
[print]
1432-1203
[online]
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DOI
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10.1007/BF00206959
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Volume/pages
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94
:6
(1994)
, p. 653-657
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ISI
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A1994PT73200010
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Full text (Publisher's DOI)
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