Rapid and accurate G M1-gangliosidosis diagnosis using a parentage testing microsatellite

Kreutzer, Robert; Kreutzer, Mihaela; Leeb, Tosso; Baumgärtner, Wolfgang (2008). Rapid and accurate G M1-gangliosidosis diagnosis using a parentage testing microsatellite. Molecular and cellular probes, 22(4), pp. 252-254. Elsevier 10.1016/j.mcp.2008.05.001

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The G M1-gangliosidosis is an autosomal recessive lysosomal storage disease caused by structural defects of the beta-galactosidase gene (GLB1) which lead to a severe phenotypical impairment in homozygous individuals, whereas heterozygous carriers remain clinically normal. Currently employed DNA parentage tests include the analysis of microsatellites, which also have a diagnostic predictive value. The aim of this study was to provide a reliable tool for genotyping the canine GLB1 which can be effectively integrated in parentage testing investigations. For this purpose the association between the GLB1 gene and the AHT K253 microsatellite was analyzed in 30 Alaskan huskies (11 GLB1+/+, 17 GLB1+/- and 2 GLB1-/- dogs). The 143 bp AHT K253 microsatellite allele was identified only in GLB1+/- and GLB1-/- animals and was in strong linkage disequilibrium with the causative mutation for G M1-gangliosidosis, a 19 bp duplication within exon 15 of the GLB1 gene. The results of the present study revealed a 100% concordance between the previous established genotypes and those obtained after the analysis of the AHT K253 microsatellite. Thus, the genotype of the AHT K253 microsatellite, which is routinely determined during dog parentage testing, has a high predictive value for the G M1-gangliosidosis carrier status.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > NeuroCenter
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health

ISSN:

0890-8508

Publisher:

Elsevier

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

17 Aug 2015 14:11

Last Modified:

18 Aug 2015 02:15

Publisher DOI:

10.1016/j.mcp.2008.05.001

PubMed ID:

18562164

BORIS DOI:

10.7892/boris.70781

URI:

https://boris.unibe.ch/id/eprint/70781

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