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PRA1-X-Linked (XLPRA1)

Other name: Chr X-related Progressive Retinal Atrophy (XLPRA1), RPGR
Affected gene: RPGR
Inheritance: Recessive, linked to the X chromosome
Mutation:  ROS_Cfam_1.0  CanFam6 ChrX g.20425884-20425888 (del GAGGA)
OMIA Link: 000831-9615


 * In hereditary genetic diseases linked to the X chromosome, the following rules apply:
-For a recessive disease, the male is affected (at risk of developing the disease) even if he only has one copy of the mutation.
-Transmission from a male to a male does not exist, because a male never transmits his X chromosome to his sons.
-All females of an affected male will inherit the mutant gene.
-Females who are carriers have a 50% chance of passing the mutant gene to their sons and daughters.


Breeds suitable for testing:  Samoyed, Siberian Husky

 Reference:
Zhang, Q., Acland, GM., Wu, WX., Johnson, JL., Pearce-Kelling, S., Tulloch, B., Vervoort, R., Wright, AF., Aguirre, GD. : Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 11:993-1003, 2002. Pubmed reference: 11978759.

PRA1-X-Linked (XLPRA1)

C$65.00Price

5 tests et + 55$ch.

Quantity

 Après la réception de vos échantillons au laboratoire, veuillez prévoir un délai de 10 à 15 jours ouvrables pour l’envoi de vos résultats.

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