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Updated: Jun 13, 2026
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years
Kálmán Tóth1, Zsuzsanna Kiss-Láaszló, Endre Lénárt
1Department of Orthopedics, Faculty of Medicine, University of Szeged, 6725, Semmelweis Street 6, Szeged, Hungary. tothk@orto.szote.u-szeged.hu
Abstract:
Authors trace an ochronotic Hungarian family, which moved from Slovakia to Hungary 300 years ago. As the family members lived in a relatively close village community the gene mutation had been survived silently for ages before the clinical symptoms developed. Family tree analysis could detect with the use of allele specific PCR amplification-the p.G161R mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene, which resulted in a specific genotype appearing in the Slovak population. We found a heterozygote member of this family who has children with an alkaptonuria-homozygote and known-heterozygote genotypes so there would be a high risk of alkaptonuria in their offsprings. Therefore genetic counselling is highly recommended to minimize the risk factors.
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01:31Translation
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