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: 雜誌貢獻文章同行評審

39 引文 斯高帕斯(Scopus)


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).

頁(從 - 到)35-40
期刊Journal of the Neurological Sciences
出版狀態已發佈 - 2001

ASJC Scopus subject areas

  • 老化
  • 神經病學(臨床)
  • 手術
  • 神經科學 (全部)
  • 發展神經科學
  • 神經內科


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