Back to Search
Start Over
Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families.
- Source :
-
Journal of the neurological sciences [J Neurol Sci] 2001 Sep 15; Vol. 190 (1-2), pp. 35-40. - Publication Year :
- 2001
-
Abstract
- Mutations of the telomeric survival motor neuron gene (SMN1) are related to spinal muscular atrophy (SMA). However, no phenotype-genotype correlation has been observed since the SMN1 gene is lacking in the majority of patients affected with either the severe form (type I) or the milder forms (types II and III). Here, we analyze the SMN, NAIP and P44 genes in 132 Chinese SMA patients and their families. At least three types of normal allele, and four types of mutant allele were found in this study. The combination of one normal allele with one mutant allele resulted in carriers of different types, and the combination of different mutant alleles accounted for the different genotypes among different types of SMA. Deletions of mutant alleles can be further subgrouped into four types, which includes involving SMN1, SMN1 and NAIP(T) (telomeric portion of NAIP gene), SMN1 and NAIP(T) and P44(T) (telomeric portion of P44 gene), and SMN1 and SMN2 (centromeric portion of SMN gene). Some of the severe (type I) SMA cases correlated with the extent of deletions in the SMN, NAIP and P44 genes or the dosage of SMN gene when both SMN1 and SMN2 are deleted. We also found two novel point mutations, an A insertion at codon 8 (AGT-->AAGT) and an A substitution at codon 228 (TTA-->TAA).
- Subjects :
- Anterior Horn Cells pathology
Chimera genetics
China
Cyclic AMP Response Element-Binding Protein
DNA Mutational Analysis
Exons genetics
Female
Frameshift Mutation genetics
Gene Deletion
Gene Frequency genetics
Genetic Testing
Genotype
Heterozygote
Homozygote
Humans
Male
Neuronal Apoptosis-Inhibitory Protein
Pedigree
Phenotype
RNA-Binding Proteins
SMN Complex Proteins
Survival of Motor Neuron 1 Protein
Survival of Motor Neuron 2 Protein
Telomere genetics
Anterior Horn Cells physiopathology
Mutation genetics
Nerve Tissue Proteins genetics
Peptide Initiation Factors genetics
Spinal Muscular Atrophies of Childhood genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0022-510X
- Volume :
- 190
- Issue :
- 1-2
- Database :
- MEDLINE
- Journal :
- Journal of the neurological sciences
- Publication Type :
- Academic Journal
- Accession number :
- 11574104
- Full Text :
- https://doi.org/10.1016/s0022-510x(01)00574-3