Ontology highlight
ABSTRACT:
SUBMITTER: Cao YY
PROVIDER: S-EPMC4710843 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Cao Yan-yan YY Qu Yu-jin YJ He Sheng-xi SX Li Yan Y Bai Jin-Ll JL Jin Yu-wei YW Wang Hong H Song Fang F
Journal of Zhejiang University. Science. B 20160101 1
The homozygous loss of the survival motor neuron 1 (SMN1) gene is the primary cause of spinal muscular atrophy (SMA), a neuromuscular degenerative disease. A genetically similar gene, SMN2, which is not functionally equivalent in all SMA patients, modifies the clinical SMA phenotypes. We analyzed the methylation levels of 4 CpG islands (CGIs) in SMN2 in 35 Chinese children with SMA by MassARRAY. We found that three CpG units located in CGI 1 (nucleotides (nt) -871, -735) and CGI 4 (nt +999) are ...[more]