title: Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years.
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.
authors.affiliation: Department of Orthopedics, Faculty of Medicine, University of Szeged, 6725, Semmelweis Street 6, Szeged, Hungary. tothk@orto.szote.u-szeged.hu
authors.forename: Kálmán
authors.initials: K
authors.lastname: Tóth
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Kiss-Láaszló
authors.forename: Endre
authors.initials: E
authors.lastname: Lénárt
authors.forename: Katalin
authors.initials: K
authors.lastname: Juhász
authors.forename: Katalin
authors.initials: K
authors.lastname: Takács
authors.forename: Tamas
authors.initials: T
authors.lastname: Bender
authors.forename: Janos
authors.initials: J
authors.lastname: Szabó
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D050560:Homogentisate 1,2-Dioxygenase / Q000235:genetics*; D006801:Humans; D006814:Hungary; D007592:Joint Diseases / Q000208:ethnology / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009794:Ochronosis / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D018154:Slovakia / Q000208:ethnology
chemical_list: D050560:Homogentisate 1,2-Dioxygenase