SMA prenatal diagnosis: A modified protocol to help differentiation between deletions and gene conversion

In SMA, unusual findings such as deletions restricted only to SMN1 exon 8, inspite of honozygous SMN1 exons 7–8 deletions in the family, may obscure final diagnosis. Application of a modified PCR procedure allowed discrimination between a deletion or a gene conversion event in a case of prenatal dia...

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Bibliographic Details
Published inMolecular and cellular probes Vol. 29; no. 1; pp. 71 - 73
Main Authors Kekou, K., Sofocleous, C., Konstantinidis, G., Fryssira, H., Mavrou, A., Kitsiou, S., Kanavakis, E.
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.02.2015
Subjects
Adult
Amplified Fragment Length Polymorphism Analysis - methods
DNA - analysis
Female
Gene Conversion
Gene Deletion
Humans
Muscular Atrophy, Spinal - diagnosis
Pregnancy
Prenatal
Prenatal Diagnosis - methods
SMA
SMN1
SMN2
Survival of Motor Neuron 1 Protein - genetics
Prenatal
SMN2
SMN1
Gene conversion
SMA
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Summary:In SMA, unusual findings such as deletions restricted only to SMN1 exon 8, inspite of honozygous SMN1 exons 7–8 deletions in the family, may obscure final diagnosis. Application of a modified PCR procedure allowed discrimination between a deletion or a gene conversion event in a case of prenatal diagnosis.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0890-8508
1096-1194
DOI:10.1016/j.mcp.2014.10.001