Molecular diagnosis of spinal muscular atrophy
Regional Genetic Services, St Mary's
Hospital, Hathersage Road, Manchester M13 0JH, UK
Correspondence to: Dr Stewart.
Accepted 4 December 1997
The frequency of deletions within the survival motor neurone
(SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in
patients with spinal muscular atrophy (SMA), and the impact of this on
the diagnosis and prenatal diagnosis of SMA, were investigated by
molecular analysis of stored DNA and retrospective review of case
notes. In type I SMA, 16 of 17 cases were homozygously deleted for
exons 7 and 8 of SMN, 14 of 17 were homozygously deleted for exon 5 of
NAIP, and 13 of 17 were deleted for both. In types II and III SMA,
seven of nine cases were deleted for exons 7 and 8 of SMN. Deletions of
SMN and NAIP occurred in four of nine cases. With one exception, the
deletion genotypes of probands, affected siblings, and terminated
fetuses were identical. Molecular studies are replacing conventional
investigations for SMA and have a high uptake prenatally.
|
Key messages
|
© 1998 by Archives of Disease in Childhood
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
-
Dror, Y., Freedman, M. H.
(2001). Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. Blood
97: 3011-3016
[Abstract] [Full Text]
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
- Citation Map
Services
- Email this link to a friend
- Similar articles in ADC Online
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
