Genotype Analysis Identifies the Cause of the "Royal Disease" Export

@article{citeulike:5915933, abstract = {The "royal disease," a blood disorder transmitted from Queen Victoria to European royal families, is a striking example of X-linked recessive inheritance. Although the disease is widely recognized to be a form of the blood clotting disorder hemophilia, its molecular basis has never been identified, and the royal disease is now likely extinct. We identified the likely disease-causing mutation by applying genomic methodologies (multiplex target amplification and massively parallel sequencing) to historical specimens from the Romanov branch of the royal family. The mutation occurs in F9, a gene on the X chromosome that encodes blood coagulation factor IX, and is predicted to alter RNA splicing and to lead to production of a truncated form of factor IX. Thus, the royal disease is the severe form of hemophilia, also known as hemophilia B or Christmas disease. 10.1126/science.1180660}, author = {Rogaev, Evgeny I. and Grigorenko, Anastasia P. and Faskhutdinova, Gulnaz and Kittler, Ellen L. W. and Moliaka, Yuri K.}, citeulike-article-id = {5915933}, citeulike-linkout-0 = {http://dx.doi.org/10.1126/science.1180660}, citeulike-linkout-1 = {http://www.sciencemag.org/content/1180660/.abstract}, citeulike-linkout-2 = {http://www.sciencemag.org/content/1180660/.full.pdf}, citeulike-linkout-3 = {http://view.ncbi.nlm.nih.gov/pubmed/19815722}, citeulike-linkout-4 = {http://www.hubmed.org/display.cgi?uids=19815722}, day = {6}, doi = {10.1126/science.1180660}, journal = {Science}, keywords = {ancient-dna, forensic, historical}, month = {November}, number = {5954}, pages = {817+}, posted-at = {2009-10-09 13:44:24}, priority = {2}, title = {Genotype Analysis Identifies the Cause of the "Royal Disease"}, url = {http://dx.doi.org/10.1126/science.1180660}, volume = {326}, year = {2009} }

TY - JOUR ID - citeulike:5915933 L3 - citeulike-article-id:5915933 N2 - The "royal disease," a blood disorder transmitted from Queen Victoria to European royal families, is a striking example of X-linked recessive inheritance. Although the disease is widely recognized to be a form of the blood clotting disorder hemophilia, its molecular basis has never been identified, and the royal disease is now likely extinct. We identified the likely disease-causing mutation by applying genomic methodologies (multiplex target amplification and massively parallel sequencing) to historical specimens from the Romanov branch of the royal family. The mutation occurs in F9, a gene on the X chromosome that encodes blood coagulation factor IX, and is predicted to alter RNA splicing and to lead to production of a truncated form of factor IX. Thus, the royal disease is the severe form of hemophilia, also known as hemophilia B or Christmas disease. 10.1126/science.1180660 IS - 5954 JF - Science TI - Genotype Analysis Identifies the Cause of the "Royal Disease" VL - 326 SP - 817 KW - ancient-dna KW - forensic KW - historical AU - Rogaev, Evgeny AU - Grigorenko, Anastasia AU - Faskhutdinova, Gulnaz AU - Kittler, Ellen AU - Moliaka, Yuri PY - 2009/11/06/ UR - http://dx.doi.org/10.1126/science.1180660 ER -