Aprilshasthund

PRA

Publicerad 2012-09-07 22:42:18 i

Fick förfrågan om var man beställer kitet för att göra PRArcd4-testet.

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www.aht.org.uk

Progressive retinal atrophy in Gordon Setter

Progressive Retinal Atrophy (PRA) is  a well-recognisedinherited condition that many breeds of dog  are predisposed to.  The condition is  characterised by bilateral degeneration of the retina which causes progressive  vision loss that culminates in total blindness.   There is no treatment for PRA, of which several genetically distinct  forms are recognised, each caused by a different mutation in a specific  gene.  The various forms of PRA are typically  breed-specific, with clinically affected dogs of the same breed usually sharing  an identical mutation.  Clinically  affected dogs of different breeds, however, usually have different mutations,  although PRA-mutations can be shared by several breeds. 

Mutation Identified

      Geneticists  at the AHT have identified a recessive mutation that is associated with the  development of PRA  in the Gordon Setter.   The DNA test we are offering (from March 14th 2011) examines  the DNA from each dog being tested for the presence or absence of this precise  mutation and is thus a ‘mutation-based test’ and not a ‘linkage-based test’. 

Other Forms of PRA

      The  research we have carried out to identify the PRA mutation has revealed that  there are at least two forms of PRA segregating in the Gordon Setter.  The DNA test we are offering is for the  mutation that causes one of these forms, which we are calling rcd4; the  mutation that causes the additional form has yet to be identified. 

      Our  research indicates rcd4 is  the most common form of PRA among Gordon Setters and the development of this  test therefore enables breeders to slowly decrease the frequency of an  important form of PRA in their lines.   However, because we know that at least one other form of  PRA exists within the breed, we cannot  guarantee that any dog will not develop PRA, even if they are clear of the rcd4  mutation. 

Breeders using the test will be  sent results identifying their dog as belonging to one of three categories:

CLEAR: these dogs have two normal copies of DNA.  Clear dogs will not develop PRA as a result  of the rcd4 mutation, although we cannot exclude the possibility they might  develop PRA due to other mutations they might carry that are not detected by  this test.

CARRIER: these dogs have one copy of the mutation and one normal copy of DNA. These  dogs will not develop PRA themselves as a result of the rcd4 but they will pass  the mutation on to approximately 50% of their offspring.We cannot exclude the possibility that carriers might develop PRA due to  other mutations they might carry that are not detected by this test.

GENETICALLY AFFECTED:  these dogs have two copies of the rcd4 mutation and will almost certainly develop  PRA during their lifetime.  The average  age of diagnosis for dogs with rcd4 is 10 yo, although there is considerable  variation within the breed.

Advice

Our  research has demonstrated that the frequency of the rcd4 mutation in Gordon  Setters is high and  as many as 50%  of dogs  might be carriers.  The mutation is recessive which means that all dogs can be bred from safely but  carriers and genetically affected dogs should only be bred to DNA tested, clear  dogs.  About half the puppies from any  litter that has a carrier parent will themselves be carriers and any dogs from  such litters that will be used for breeding should themselves be DNA tested  prior to breeding so appropriate mates can be selected. 

      It is  advisable for all breeding dogs to have their eyes clinically examined by a  veterinary ophthalmologist prior to breeding and throughout their lives so that  any cases of PRA caused by additional mutations can be detected and that newly  emerging conditions can be identified.

Tests should be ordered from our online webshop

  Enquiries or requests for swab kits should be made to  Symone Ingram telephone +44 (0) 1638 555621 or fax +44 (0) 1638 555666 or via e-mail to [email protected]
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Progressive retinal atrophy in Gordon Setter

Progressive Retinal Atrophy (PRA) is  a well-recognisedinherited condition that many breeds of dog  are predisposed to.  The condition is  characterised by bilateral degeneration of the retina which causes progressive  vision loss that culminates in total blindness.   There is no treatment for PRA, of which several genetically distinct  forms are recognised, each caused by a different mutation in a specific  gene.  The various forms of PRA are typically  breed-specific, with clinically affected dogs of the same breed usually sharing  an identical mutation.  Clinically  affected dogs of different breeds, however, usually have different mutations,  although PRA-mutations can be shared by several breeds. 

Mutation Identified

      Geneticists  at the AHT have identified a recessive mutation that is associated with the  development of PRA  in the Gordon Setter.   The DNA test we are offering (from March 14th 2011) examines  the DNA from each dog being tested for the presence or absence of this precise  mutation and is thus a ‘mutation-based test’ and not a ‘linkage-based test’. 

Other Forms of PRA

      The  research we have carried out to identify the PRA mutation has revealed that  there are at least two forms of PRA segregating in the Gordon Setter.  The DNA test we are offering is for the  mutation that causes one of these forms, which we are calling rcd4; the  mutation that causes the additional form has yet to be identified. 

      Our  research indicates rcd4 is  the most common form of PRA among Gordon Setters and the development of this  test therefore enables breeders to slowly decrease the frequency of an  important form of PRA in their lines.   However, because we know that at least one other form of  PRA exists within the breed, we cannot  guarantee that any dog will not develop PRA, even if they are clear of the rcd4  mutation. 

Breeders using the test will be  sent results identifying their dog as belonging to one of three categories:

CLEAR: these dogs have two normal copies of DNA.  Clear dogs will not develop PRA as a result  of the rcd4 mutation, although we cannot exclude the possibility they might  develop PRA due to other mutations they might carry that are not detected by  this test.

CARRIER: these dogs have one copy of the mutation and one normal copy of DNA. These  dogs will not develop PRA themselves as a result of the rcd4 but they will pass  the mutation on to approximately 50% of their offspring.We cannot exclude the possibility that carriers might develop PRA due to  other mutations they might carry that are not detected by this test.

GENETICALLY AFFECTED:  these dogs have two copies of the rcd4 mutation and will almost certainly develop  PRA during their lifetime.  The average  age of diagnosis for dogs with rcd4 is 10 yo, although there is considerable  variation within the breed.

Advice

Our  research has demonstrated that the frequency of the rcd4 mutation in Gordon  Setters is high and  as many as 50%  of dogs  might be carriers.  The mutation is recessive which means that all dogs can be bred from safely but  carriers and genetically affected dogs should only be bred to DNA tested, clear  dogs.  About half the puppies from any  litter that has a carrier parent will themselves be carriers and any dogs from  such litters that will be used for breeding should themselves be DNA tested  prior to breeding so appropriate mates can be selected. 

      It is  advisable for all breeding dogs to have their eyes clinically examined by a  veterinary ophthalmologist prior to breeding and throughout their lives so that  any cases of PRA caused by additional mutations can be detected and that newly  emerging conditions can be identified.

 

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