Accesso libero

Genetics 101: understanding transmission and genetic testing of inherited bleeding disorders

Eugenia Biguzzi

Eugenia Biguzzi

Fondazione IRCCS Ca’ Granda Ospedale Maggiore, Angelo Bianchi Bonomi Hemophilia and Thrombosis CenterMilano, Italy
Profilo Orcid
Cerca questo autore su
Sciendo|Google Scholar
Biguzzi, Eugenia
, 
Karin van Galen

Karin van Galen

Utrecht University Medical CentreUtrecht, The Netherlands
Profilo Orcid
Cerca questo autore su
Sciendo|Google Scholar
Galen, Karin van
 e 
Rezan A Kadir

Rezan A Kadir

Royal Free London NHS Foundation TrustLondon, UK
Profilo Orcid
Cerca questo autore su
Sciendo|Google Scholar
Kadir, Rezan A
  
21 ott 2019
Genetics 101: understanding transmission and genetic testing of inherited bleeding disorders's Cover Image
INFORMAZIONI SU QUESTO ARTICOLO
Articolo precedente
Articolo Successivo
Cita
Scarica la copertina
Categoria dell'articolo: Women With Bleeding Disorders
Pubblicato online: 21 ott 2019
Pagine: 10 - 17
DOI: https://doi.org/10.17225/jhp00139
Parole chiave
© 2019 Eugenia Biguzzi, Karin van Galen, Rezan A Kadir, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Pattern of inheritance of haemophilia (X-linked recessive inheritance)
Pattern of inheritance of haemophilia (X-linked recessive inheritance)

Figure 2

Transmission of haemophilia from Queen Victoria. Victoria had four sons (squares) and five daughters (circles). One son had haemophilia (solid square) and two daughters were known to carry the gene (dotted circle), passing it on to boys in the Spanish and Russian royal families.
Transmission of haemophilia from Queen Victoria. Victoria had four sons (squares) and five daughters (circles). One son had haemophilia (solid square) and two daughters were known to carry the gene (dotted circle), passing it on to boys in the Spanish and Russian royal families.

Figure 3

Von Willebrand disease Types 1 and 2 follow an autosomal dominant inheritance pattern; Type 3 follows an autosomal recessive pattern
Von Willebrand disease Types 1 and 2 follow an autosomal dominant inheritance pattern; Type 3 follows an autosomal recessive pattern
undefined

Types of DNA mutationThe changes in the letters/words in the left hand column demonstrate the type, mechanism and results of DNA mutation_ Every letter of the words that make up the sentence represents a DNA base_ Three consecutive letters codify an amino acid of the protein_

THE MAN SAW THE DOG HIT THE CANNormal DNA
THE MAN SAW THE DOT HIT THE CANMissenseA change in one DNA base pair resulting in substitution of one amino acid for another in the protein made by the gene
THE MAN SAW THE DOG *NonsenseA change in one DNA base pair that prematurely signals the cell to stop building a protein, resulting in a shortened protein
THE MAN SAW THE DOG * THE CANDeletionRemoves a piece of DNA
THE MAN SAW THE FAT DOG HIT THE CANInsertionChanges the number of DNA bases in a gene by adding a piece of DNA
THE MAN SAW THE *OGH ITT HEC ANFrameshiftOccurs when the addition or loss of DNA bases changes a gene’s reading frame. The groups of three bases that code a single amino acid are shifted, thereby changing the code
Lingua:
Inglese
Frequenza di pubblicazione:
1 volte all'anno
Argomenti della rivista:
Medicina, Scienze medicali di base, Scienze medicali di base, altro, Medicina clinica, Medicina clinica, altro, Farmacia, Farmacologia
Feed RSS della rivista