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Linkage in a family with X‐linked Charcot‐Marie‐Tooth disease
Author(s) -
Haites N.,
Fairweather N.,
Clark C.,
Kelly K. F.,
Simpson S.,
Johnston A. W.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb02964.x
Subject(s) - tooth disease , linkage (software) , genetics , genetic linkage , disease , biology , medicine , gene
The gene for the X‐linked form of Charcot‐Marie‐Tooth disease (CMT Peroneal Muscular Atrophy, X‐linked: McKusick No. 30280) has been shown in a single family to be linked to DXYSI with a lod score of 4.55 at a recombination fraction of 0.03 and to PGK1 with a lod score of 3.34 at zero recombination. This is in agreement with previous work based on several families. Pooled data from this family and 7 previously reported families give a maximum lod score of 12.04 at θ max of 0.05 for linkage between CMTX and DXYS1 loci.