Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families

Chang Hai Tsai, Yuh Jyh Jong, Chaur Jong Hu, Chih Mei Chen, Mu Chin Shih, Chih Peng Chang, Jan Gowth Chang

研究成果: 雜誌貢獻文章

32 引文 (Scopus)

摘要

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 NAIPT (telomeric portion of NAIP gene), SMN1 and NAIPT and P44T (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).

原文英語
頁(從 - 到)35-40
頁數6
期刊Journal of the Neurological Sciences
190
發行號1-2
出版狀態已發佈 - 2001
對外發佈Yes

指紋

Spinal Muscular Atrophy
Alleles
Genes
Codon
Spinal Muscular Atrophies of Childhood
Gene Dosage
Genetic Association Studies
Motor Neurons
Point Mutation
Genotype
Mutation

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

引用此文

Tsai, C. H., Jong, Y. J., Hu, C. J., Chen, C. M., Shih, M. C., Chang, C. P., & Chang, J. G. (2001). Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families. Journal of the Neurological Sciences, 190(1-2), 35-40.

Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families. / Tsai, Chang Hai; Jong, Yuh Jyh; Hu, Chaur Jong; Chen, Chih Mei; Shih, Mu Chin; Chang, Chih Peng; Chang, Jan Gowth.

於: Journal of the Neurological Sciences, 卷 190, 編號 1-2, 2001, p. 35-40.

研究成果: 雜誌貢獻文章

Tsai, CH, Jong, YJ, Hu, CJ, Chen, CM, Shih, MC, Chang, CP & Chang, JG 2001, 'Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families', Journal of the Neurological Sciences, 卷 190, 編號 1-2, 頁 35-40.
Tsai, Chang Hai ; Jong, Yuh Jyh ; Hu, Chaur Jong ; Chen, Chih Mei ; Shih, Mu Chin ; Chang, Chih Peng ; Chang, Jan Gowth. / Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families. 於: Journal of the Neurological Sciences. 2001 ; 卷 190, 編號 1-2. 頁 35-40.
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