Human Genetics

Researchers from Australian National University describe findings in human genetics

Published in Genomics and Genetics Weekly, January 18th, 2008

"Hartnup disorder is an aminoaciduria that results from mutations in the recently described gene SLC6A19 on chromosome 5p15.33. The disease is inherited in a simple recessive manner and ten different mutations have been described to date," investigators in Canberra, Australia report.

"One mutation, the D173N allele, is present in 42% of Hartnup chromosomes from apparently unrelated families from both Australia and North America. We report an investigation of the origins of the D173N allele using a unique combination of variants including SNPs, microsatellites, and a VNTR across 211 Kb spanning the SLC6A19 locus. All individuals who carry the mutant allele share an...

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Source: Genomics and Genetics Weekly (2008-01-18)

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