PMID: 7581364Aug 1, 1995Paper

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

Human Molecular Genetics
B WirthA H Burghes

Abstract

The candidate region for spinal muscular atrophy (SMA) has been defined as a 750 kb interval on 5q13. In this study, we performed allelic association studies in 154 German SMA families with the multicopy markers Ag1-CA (D5S1556); C212 (D5F149S1/S2) and correlated genotype data with deletion of candidate genes. Both multicopy markers recognize 0-3 alleles pro chromosome. Deletions were detected for all copies of the markers Ag1-CA (C272) and C212 in 13 of 88 (15%) type I SMA patients and three of 48 (6%) type II patients. In all informative cases, the deletion was inherited from one parent. In two further cases (one type I and one type III SMA), de novo deletions of only one copy of Ag1-CA and C212 were found. In both cases the patients were homozygously deleted for the survival motor neuron (SMN) gene (exons 7 and 8) but only the type I SMA patient was deleted for the neuronal apoptosis inhibitory protein (NAIP) gene (exons 5 and 6). A third case (type II SMA) showed de novo deletion of SMN, but not of Ag1-CA, C212 and NAIP. Specific alleles of Ag1-CA and C212 showed significant association with SMA, particularly in type I SMA. When the number of marker copies defines genotypes, 1,1 (one allele on each chromosome) is found to b...Continue Reading

Citations

Sep 3, 2013·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Sebastian Lunke, Assam El-Osta
Jul 17, 1998·Journal of the Neurological Sciences·S Al RajehA Snellen
Jun 14, 2002·Neuromuscular Disorders : NMD·Albena JordanovaLuba Kalaydjieva
Dec 1, 1996·Neuromuscular Disorders : NMD·K E Morrison
Feb 13, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Matthew D MailmanThomas W Prior
Feb 1, 1996·Journal of Medical Genetics·N R RodriguesK E Davies
Jun 3, 2010·Frontiers in Bioscience (Landmark Edition)·Thomas W BebeeDawn S Chandler
Oct 23, 1997·Annals of Neurology·R KorinthenbergK Zerres
Jul 25, 2008·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Monique A LorsonChristian L Lorson
Oct 20, 2006·Neuromuscular Disorders : NMD·Eva L ArkbladMargareta Nordling
Jun 23, 1998·American Journal of Human Genetics·L CampbellK E Davies
Jan 18, 2006·Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi·Sarita Agarwal, Nikhil Moorchung
Jul 1, 1997·American Journal of Human Genetics·A H Burghes
Mar 31, 2015·PloS One·Galina Yu ZheleznyakovaHelgi B Schiöth
Aug 13, 1998·Journal of Child Neurology·H OmranR Korinthenberg
Apr 16, 1998·Journal of Child Neurology·L P Rowland

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