Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.
Hereditary motor and sensory neuropathy type 1 (HMSN I) is an autosomal dominant disorder genetically localized on chromosome 1 in a few families and on chromosome 17 in other families. We analyzed linkage between 6 markers of chromosome 1, 2 markers of chromosome 17, and the HMSN I locus using restriction fragment length polymorphisms and serotyping for the Duffy blood group in 5 families with HMSN I. Only in 1 of these families is linkage present between the disease locus and the loci for Duffy blood group and glucocerebrosidase (chromosome 1 markers). In the 4 other families the HMSN I locus is linked to the chromosome 17 markers pEW301 and pA10-41.
Defesche
J C
JC
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Hoogendijk
J E
JE
de Visser
M
M
de Visser
O
O
Bolhuis
P A
PA
D000293:Adolescent; D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics*
D005819:Genetic Markers; D004247:DNA