HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

[A study of survival motor neuron and neuronal apoptosis inhibitory protein gene in spinal muscular atrophy].

AbstractOBJECTIVE:
To study the absence of survival motor neuron(SMN) gene exon 7,8 and neuronal apoptosis inhibitory protein(NAIP) gene exon 5,6 in Chinese patients with type I - IV spinal muscular atrophy (SMA) and to confirm the relationship between the deletions of SMN, NAIP and SMA phenotype.
METHODS:
PCR and PCR-enzyme methods were used to detect the deletions of NAIP gene exon 5,6 and SMN gene exon 7,8 in 45 SMA (I - IV) patients and 30 healthy relatives of the patients and 30 normal controls.
RESULTS:
Deletions of exon 7 and 8 of the telomeric SMN gene were 4/4, 2/3, 1/8 and 0/30 in type I, II, III and IV SMA patients, respectively. One patient with type II lacked the exon 7 but retained exon 8. No deletions was found in the relatives and controls(0/60). No deletions of exon 5 and 6 of the NAIP gene was detected in all the patients, healthy relatives and controls.
CONCLUSIONS:
Deletions of SMN gene exon 7 and 8 exa mined by PCR-enzyme digestion could be recommended as an accurate gene diagnostic method for SMA with type I and II. However, the method was not as useful in type III as in I and II for making a diagnosis of SMA. Type IV SMA, a heterogeneous disease with phenotypical similarities to type I - III SMA, may be caused by deletion of other genes. The frequency of NAIP deletion was lower in Chinese SMA patients.
AuthorsL Zhang, X Yang, B Xiao
JournalZhonghua nei ke za zhi (Zhonghua Nei Ke Za Zhi) Vol. 40 Issue 6 Pg. 401-4 (Jun 2001) ISSN: 0578-1426 [Print] China
PMID11798607 (Publication Type: English Abstract, Journal Article)
Chemical References
  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • Neuronal Apoptosis-Inhibitory Protein
  • RNA-Binding Proteins
  • SMN Complex Proteins
Topics
  • Child
  • Child, Preschool
  • Cyclic AMP Response Element-Binding Protein (genetics)
  • Exons (genetics)
  • Female
  • Gene Deletion
  • Humans
  • Infant
  • Male
  • Muscular Atrophy, Spinal (genetics)
  • Nerve Tissue Proteins (genetics)
  • Neuronal Apoptosis-Inhibitory Protein (genetics)
  • Polymerase Chain Reaction
  • RNA-Binding Proteins (genetics)
  • SMN Complex Proteins

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: