PT  - JOURNAL ARTICLE
AU  - Daniels, R J
AU  - Campbell, L
AU  - Rodrigues, N R
AU  - Francis, M J
AU  - Morrison, K E
AU  - McLean, M
AU  - MacKenzie, A
AU  - Ignatius, J
AU  - Dubowitz, V
AU  - Davies, K E
TI  - Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
AID  - 10.1136/jmg.32.2.93
DP  - 1995 Feb 01
TA  - Journal of Medical Genetics
PG  - 93--96
VI  - 32
IP  - 2
4099  - http://jmg.bmj.com/content/32/2/93.short
4100  - http://jmg.bmj.com/content/32/2/93.full
SO  - J Med Genet1995 Feb 01; 32
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.