Abstract | OBJECTIVE: 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.
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Authors | L Zhang, X Yang, B Xiao |
Journal | Zhonghua nei ke za zhi
(Zhonghua Nei Ke Za Zhi)
Vol. 40
Issue 6
Pg. 401-4
(Jun 2001)
ISSN: 0578-1426 [Print] China |
PMID | 11798607
(Publication Type: English Abstract, Journal Article)
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Chemical References |
- Cyclic AMP Response Element-Binding Protein
- Nerve Tissue Proteins
- Neuronal Apoptosis-Inhibitory Protein
- RNA-Binding Proteins
- SMN Complex Proteins
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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
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