Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
An autosomal dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large Bulgarian family. Linkage of the above family to the spinal muscular atrophy type I, II and III locus on chromosome 5 has been excluded. In an attempt to map this disease gene we have analysed individuals of this family, with more than 140 microsatellite polymorphic markers of the human genome. A maximum lod score of 5.99 at theta = 0.007 has been obtained with locus D7S795. We have thus mapped the gene for this hereditary form of distal spinal muscular atrophy to chromosome 7p.
Christodoulou
K
K
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Kyriakides
T
T
Hristova
A H
AH
Georgiou
D M
DM
Kalaydjieva
L
L
Yshpekova
B
B
Ivanova
T
T
Weber
J L
JL
Middleton
L T
LT
D000293:Adolescent; D017668:Age of Onset; D001132:Arm; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic