Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies
作者： E. C. M. Mariman , A. A. W. M. Gabreëls-Festen , S. E. C. van Beersum , P. J. H. Jongen , E. van de Looij
DOI: 10.1007/BF00210601
关键词:
摘要: Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder of the peripheral nervous system, cause which has recently been identified as deletion on chromosome 17p. The corresponds duplication that commonly observed in patients hereditary motor and sensory type Ia (HMSNIa, 17p11.2–p12). Therefore, gene for myelin protein 22 (PMP-22) candidate both HMSNIa HNPP. Here, we show similar present one family HNPP but clearly absent another family. Affected members this carry expected two copies PMP-22 surrounding region. Furthermore, linkage analyses exclude large part 17p, spanning area deleted other families HNPP, location disease gene. These data strongly argue existence genetic heterogeneity underlying Results from two-point analysis markers 1q are inconsistent possible involvement locus HMSNIb
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