Publication Date:
2009-10-10
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rogaev, Evgeny I -- Grigorenko, Anastasia P -- Faskhutdinova, Gulnaz -- Kittler, Ellen L W -- Moliaka, Yuri K -- New York, N.Y. -- Science. 2009 Nov 6;326(5954):817. doi: 10.1126/science.1180660. Epub 2009 Oct 8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉University of Massachusetts Medical School, 303 Belmont Street, Worcester, MA 01604, USA. Evgeny.Rogaev@umassmed.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19815722" target="_blank"〉PubMed〈/a〉
Keywords:
Alleles
;
Chromosomes, Human, X/genetics
;
Codon, Nonsense
;
Europe
;
Factor IX/*genetics
;
*Famous Persons
;
Female
;
Genes, X-Linked
;
Genotype
;
Hemophilia B/*genetics/history
;
Heterozygote
;
History, 19th Century
;
History, 20th Century
;
Humans
;
Introns
;
Male
;
Pedigree
;
*Point Mutation
;
*RNA Splicing
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
