A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico

Southern blot analysis was then carried out to identify a junction fragment spanning the deletion breakpoints. Since the proximal breakpoint of the deletion was likely to be in intron 2, a 500 bpStuI fragment from the 3[variant prime] end of intron 2 was used as a probe. Inverse PCR amplifications w...

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Bibliographic Details
Published in:Journal of medical genetics 2001-03, Vol.38 (3), p.e9-9
Main Authors: TAHMAZ, FATMA ELA, SAM, SIMA, HOGANSON, GEORGE E, QUAN, FRANKLIN
Format: Article
Language:English
Subjects:
Amidohydrolases - genetics
Base Sequence
Canavan Disease - enzymology
Canavan Disease - genetics
Child
Cloning
Deoxyribonucleic acid
DNA
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
Electronic Letters
Families & family life
Family Health
Gene Deletion
Genes
Humans
Mexico
Molecular Sequence Data
Mutation
Parents & parenting
Polymerase chain reaction
Sequence Homology, Nucleic Acid
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Description
Summary:Southern blot analysis was then carried out to identify a junction fragment spanning the deletion breakpoints. Since the proximal breakpoint of the deletion was likely to be in intron 2, a 500 bpStuI fragment from the 3[variant prime] end of intron 2 was used as a probe. Inverse PCR amplifications were performed using outwardly oriented primers derived from exon 3 (EX3F and EX3inv 5[variant prime]- ACGTAGCAGGGTAGTGGAGCCAG-3[variant prime]) and the GeneAmp XL PCR kit. Since the region between the primers was not amplified, a 1.9 kb product was expected.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.38.3.e9