Familiar ochronotic arthropathy–caused by a gene mutation traced three hundred years |
| |
| Authors: | Kálmán Tóth Zsuzsanna Kiss-Láaszló Endre Lénárt Katalin Juhász Katalin Takács Tamas Bender Janos Szabó |
| |
| Institution: | 1. Department of Human Genetics, The University of Chicago, Chicago, IL, USA;2. Department of Medicine, Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, The University of Chicago, Chicago, IL, USA;3. Department of Pediatrics, Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, The University of Chicago, Chicago, IL, USA;3. Department of Pharm. Chemistry, School of Pharmacy, University of Athens, Panepistimiopolis of Zographou, GR-157 71, Athens, Greece;4. Obstetrics and Gynaecology Hospital Diagnostic, Therapeutic and Research Center, IASO S.A. 37-39 Kifisias Av., GR-151 23, Maroussi, Athens, Greece;1. Molecular Genetic Laboratory, National Genetic Centre, Muscat, Oman;2. Leiden Genome Technology Center (LGTC), Human and Clincal Genetics, Leiden University Medical Center, Leiden, The Netherlands;3. Dipartimento di Sanità Pubblica, medicina clinica e molecolare, Università di Cagliari, Italy;4. Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
