RT Journal Article
SR Electronic
T1 Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 93
OP 96
DO 10.1136/jmg.32.2.93
VO 32
IS 2
A1 Daniels, R J
A1 Campbell, L
A1 Rodrigues, N R
A1 Francis, M J
A1 Morrison, K E
A1 McLean, M
A1 MacKenzie, A
A1 Ignatius, J
A1 Dubowitz, V
A1 Davies, K E
YR 1995
UL http://jmg.bmj.com/content/32/2/93.abstract
AB Autosomal recessive childhood onset spinal muscular atrophy has been mapped to chromosome 5q13. We report the analysis of a polymorphic microsatellite which shows linkage disequilibrium with the disease. The linkage disequilibrium is observed with a null allele which is seen as the non-inheritance of alleles from one or both parents. The inheritance of a null allele was observed in 26 out of 36 (72%) informative childhood onset spinal muscular atrophy (SMA) families tested, of all types of severity and from a variety of ethnic backgrounds. In seven families segregating for the severe Werdnig-Hoffmann or SMA type I, no alleles were inherited from either parent using this microsatellite. This null allele may represent a deletion which is either closely associated with, or causes, the disease.