Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents |
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Authors: | J-G Chang Yuh-Jyh Jong Shuan-Pei Lin Bing-Wen Soong Chang-Hai Tsai T-Y Yang Chih-Peng Chang Wen-Shin Wang |
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Institution: | (1) Department of Molecular Medicine, Taipei Municipal Jen-Ai Hospital, 10, Sec. 4, Jen-Ai Rd., Taipei, Taiwan, TW;(2) Department of Pediatrics, Division of Pediatric Neurology, Kaohsiung Medical College, Kaohsiung, Taiwan, TW;(3) Department of Pediatrics, Genetic Section, Mackay Memorial Hospital, Taipei, Taiwan, TW;(4) Department of Neurology, Veteran General Hospital, Taipei, Taiwan, TW;(5) Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan, TW |
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Abstract: | We have assayed deletions of two candidate genes for spinal muscular atrophy (SMA), the survival motor neuron (SMN) and neuronal
apoptosis inhibitory protein (NAIP) genes, in 101 patients from 86 Chinese SMA families. Deletions of exons 7 and 8 of the
telomeric SMN gene were detected in 100%, 78.6%, 96.6%, and 16.7%, in type I, II, III, and adult-onset SMA patients, respectively.
Deletion of exon 7 only was found in eight type II and one type III patient. One type II patient did not have a deletion of
either exon 7 or 8. The prevalence of deletions of exons 5 and 6 of the NAIP gene were 22.5% and 2.4% in type I and II SMA
patients, respectively. We also examined four polymorphisms of SMN genes and found that there were only two, SMN-2 and CBCD541-2, in Chinese subjects. In our study, analysis of the ratio of the telomeric to centromeric portion (T/C ratio) of
the SMN gene after enzyme digestion was performed to differentiate carriers, normals, and SMA patients. We found the T/C ratio
of exon 7 of the SMN gene differed significantly among the three groups, and may be used for carrier analysis. An asymptomatic
individual with homozygous deletion of exons 7 and 8 of the SMN gene showed no difference in microsatellite markers in the
SMA-related 5q11.2–5q13.3. In conclusion, SMN deletion in clinically presumed child-onset SMA should be considered as confirmation
of the diagnosis. However, adult-onset SMA, a heterogeneous disease with phenotypical similarities to child-onset SMA, may
be caused by SMN or other gene(s).
Received: 13 November 1996 / Accepted: 13 May 1997 |
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