Abstract
This study was conducted to identify mutations in the homogentisate 1,2 dioxygenase gene (HGD) in alkaptonuria patients among Jordanian population. Blood samples were collected from four alkaptonuria patients, four carriers, and two healthy volunteers. DNA was isolated from peripheral blood. All 14 exons of the HGD gene were amplified using the polymerase chain reaction (PCR) technique. The PCR products were then purified and analyzed by sequencing. Five mutations were identified in our samples. Four of them were novel C1273A, T1046G, 551-552insG, T533G and had not been previously reported, and one mutation T847C has been described before. The types of mutations identified were two missense mutations, one splice site mutation, one frameshift mutation, and one polymorphism. We present the first molecular study of the HGD gene in Jordanian alkaptonuria patients. This study provides valuable information about the molecular basis of alkaptonuria in Jordanian population.
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Acknowledgments
The author would like to thank Mutah University for funding the alkaptonuria research project. I would also like to thank the family of AKU patients for their collaboration. I also thank Mrs. Nesrin mwafi and Mr. Mohammed abu-lebad for their help and support.
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The authors declare that they have no conflict of interest.
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Al-sbou, M. Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria. Rheumatol Int 32, 1741–1746 (2012). https://doi.org/10.1007/s00296-011-1868-0
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DOI: https://doi.org/10.1007/s00296-011-1868-0