Genotype Analysis Identifies the Cause of the “Royal Disease”

@article{Rogaev2009GenotypeAI,
  title={Genotype Analysis Identifies the Cause of the “Royal Disease”},
  author={Evgeny I. Rogaev and Anastasia P. Grigorenko and Gulnaz Faskhutdinova and Ellen Kittler and Yuri K. Moliaka},
  journal={Science},
  year={2009},
  volume={326},
  pages={817 - 817},
  url={https://api.semanticscholar.org/CorpusID:206522975}
}
DNA from historical specimens reveals the mutation causing the hemophilia that afflicted the royal families of Europe, and it is identified as 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.
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113 Citations
Highly Influential Citations
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Background Citations
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Methods Citations
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Results Citations
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113 Citations

Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter

Evidence is provided that the deletion in the Hovawart family caused a rare type of hemophilia B resembling human hemophiles B Leyden.

The ‘royal disease’– haemophilia A or B? A haematological mystery is finally solved

Following a scientific approach combining current genetic experimentation tools and the development of biological information technology, researchers were able to identify each body, and obtain precious genetic material from the young Czar Alexis, who was stricken by the disease, which revealed a causal substitution in the splice acceptor site of exon 4 in the F9 gene.

The Clinical Genetics of Hemophilia B (Factor IX Deficiency)

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Hemophilia B Leyden and once mysterious cis-regulatory mutations.

Large family genetic analysis: effects of variegated porphyria and hemophilia b on reproductive traits

A statistically significant difference was established between the analyzed traits of patients with porphyria, who at the same time are carriers of the mutation that causes hemophilia, and the indicators of healthy individuals.

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

The Hemostaseome is examined, a prerequisite for a study of the nature of the genetic variants that may cause disease in individuals whose hemostatic balance has become shifted toward either a prothrombotic or anticoagulant phenotype, by narrowing the focus from an entire genome to that of a single biological system.

X-linked and mitochondrial disorders

A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.

High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods

This is one of the first reports in which this technology has been shown to be feasible for large-scale mutation screening by single gene re-sequencing for von Willebrand disease.

Hemophilic patients and orthodontics

The review emphasis is on the importance of interconsultation with the hematologist, prevention, and oral hygiene and that of the beneficial effect of orthodontic.
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8 References

Genomic identification in the historical case of the Nicholas II royal family

It is demonstrated that convergent analysis of complete mitochondrial genome sequences combined with nuclear DNA profiles is an efficient and conclusive method for individual and kinship identification of specimens obtained from old historic relics.

THE HISTORY OF HAEMOPHILIA IN THE ROYAL FAMILIES OF EUROPE

The scientific evidence regarding the remains seems overwhelming, but the historical drama continues, and there is even now a possibility that the mystery may be solved.

Historical and political implications of haemophilia in the Spanish royal family

The political implications of haemophilia in the marriage of King Alfonso XIII of Spain and Princess Victoria Eugenie Battenberg of England have been reviewed and it can be said that when the disease affected a royal couple, the political consequences were great.

Definitions in Hemophilia

Definitions in Hemophilia - Recommendation of the Scientific Subcommittee on Factor VIII and Factor IX of the Scientific and Standardization Committee of the International Society on Thrombosis and…