JEWELPARK BORDER COLLIES
Understanding genetics, DNA results, and hip dysplasia
Understanding DNA Results
As a responsible breeder, we DNA test all our potential breeding dogs before we mate them to ensure they won’t have pups affected by genetic diseases. We also need to make sure that both dogs are compatible with each other.
Here are some examples of different results, and what they mean:
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NEGATIVE / CLEAR [NO VARIANT DETECTED] No presence of the variant (mutation) has been detected. The animal is clear of the disease and will not pass on any disease-causing mutation.
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CARRIER [ONE COPY OF THE VARIANT DETECTED] This is also referred to as HETEROZYGOUS. One copy of the normal gene and copy of the affected (mutant) gene has been detected. The animal will not exhibit disease symptoms or develop the disease. Consideration needs to be taken if breeding this animal - if breeding with another carrier or affected or unknown then it may produce an affected offspring.
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POSITIVE / AT RISK [TWO COPIES OF THE VARIANT DETECTED] Two copies of the disease gene variant (mutation) have been detected also referred to as HOMOZYGOUS for the variant. The animal may show symptoms (affected) associated with the disease. Appropriate treatment should be pursued by consulting a Veterinarian.
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POSITIVE HETEROZYGOUS [ONE COPY OF THE DOMINANT VARIANT DETECTED] Also referred to as POSITIVE ONE COPY or POSITIVE HETEROZYGOUS. This result is associated with a disease that has a dominant mode of inheritance. One copy of the normal gene (wild type) and affected (mutant) gene is present. Appropriate treatment should be pursued by consulting a Veterinarian. This result can still be used to produce a clear offspring.
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NORMAL BY PARENTAGE HISTORY The sample submitted has had its parentage verified by DNA. By interrogating the DNA profiles of the Dam, Sire and Offspring this information together with the history submitted for the parents excludes this animal from having this disease. The controls run confirm that the dog is NORMAL for the disease requested.
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NORMAL BY PEDIGREE The sample submitted has had its parentage verified by Pedigree. The pedigree has been provided and details(genetic testing reports) of the parents have been included. Parentage could not be determined via DNA profile as no sample was submitted.
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So, for example, if dog A is a carrier of disease 1, but dog B is negative for disease 1, no pups will be positive (affected) by disease 1. Some pups can be carriers of disease 1, but if a pup (pup 2) is sold as a pet and not for breeding, then there is no need for further testing as pup 2 will not be producing any offspring. If a pup (pup 3) is sold FOR breeding, then a DNA test will need to be done for pup 3, to ensure that they are compatible with the proposed partner. If pup 3 comes back to be a carrier of disease 1, then you will need to ensure that the other dog is negative for disease 1.
Understanding DNA Traits
We don’t just test for genetic diseases, but genetic traits as well. This helps us understand the potential colours that the 2 dogs will produce, and again if they are compatible. There are some obvious incompatibility issues such as if both dogs are merles. If you were to breed 2 merles together, then there would be a high chance that some of the pups would be blind, deaf, or completely white.
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Here are some examples of genetic traits that we test for, their results, and what they mean:
The name of the test is highlighted in GREEN, the result is highlighted in PINK and the explanation is in WHITE.
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Test Reported : BROWN TYRP1 [LANCASHIRE HEELER TYPE] = BL Result : B L/B L - DOES NOT CARRY BROWN/LIVER [TYRP1] 1 Gene : Variant Detected :
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Test Reported : D (DILUTE) LOCUS Result : D/D - NO COPY OF MLPH-D ALLELE (DILUTE) - PIGMENT IS NORMAL 1 Gene : MLPH Variant Detected : Base Substitution Full colour, no dilute gene present. The D allele modifies the Melanophillin (MLPH) gene. This animal cannot produce "dilute" offspring. Please Note: There are other dilute variants d2 (Sloughi, Chow Chow & Thai Ridgeback) and rare d3 (Italian Greyhound & Chihuahua) so this test/result may not identify dilute in these breeds.
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Test Reported : K LOCUS (DOMINANT BLACK) Result : KB / k y or k br- ONE COPY DOMINANT BLACK (KB) and ONE COPY OF NON-BLACK (k y ) dog MAY be brindled 1 Gene : CBD103 Variant Detected : Deletion of GGG One copy of non black and one copy of ky or kbr is present. This KB will cover the A locus and all you will visualise is the base colour. Dog will express the alleles on the A locus but any and all phaeomelanin (red) in the coat will be brindled. This allele overrides the ASIP (A) locus. The agouti phenotype may be altered for some breeds and therefore be brindle. There are three alleles at the K Locus with the following dominance hierarchy KB > Kbr > k. The first KB represents dominant black, the second allele Kbr represents brindling and may display A locus gene. Brindle in most breeds appears as black stripes on a red base. Please Note: At this stage no commercial genetic testing can distinguish brindle so breeders should rely on their pedigree or breed standard to exclude or include brindle phenotype.
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Test Reported : A LOCUS (FAWN/SABLE;TRI/TAN POINTS) Result : a t/a t - TAN POINTS/BLACK & TAN or TRICOLOUR MAY BE BRINDLED [SEE K LOCUS] 1 Gene : ASIP Variant Detected : Base Substitution 246 G>T(A82S); G>A (R83H): C>T (p.R96C) Homozygous for black and tan/tricolour (no hidden colours) allele. Tri factored/white factored in dogs that have white points. No Bi Factoring (Black White & Tan). Animals are primarily black and have areas of pheomelanin (tan) which tends to be seen on the leg and stomach areas, the side of he head and spots above the eyes. Please note the colour and distribution of pheomelanin "tan" will be dependent on the breed and other colour genes. Please note that any genes on the "A" series will only be expressed if the K locus is kk, kkbr or kbrkbr.
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Test Reported : PIED (BOTH SINEAND REPEAT VARIANTS) Result : S/S - NO PIEBALD, WHITE SPOTTING, FLASH OR PARTI COAT COLOUR 1 Gene : MITF-M on Chromosome 20 Variant Detected : g.chr20:21836563insSINELength polymorphism (repeat CAGA) chr20:21839332-21839366 MITF-M No copies of the Melanocyte Inducing Transcription Factor (MITF) "sp" allele detected. The dog will not pass the MITF variant on to offspring. Please note that other yet unidentified causes of colour deletion may exist. An S/S dog bred to sp/sp piebald dog will result in all S/sp offspring. If no other white-causing genes are at play (such as Irish, white head, pseudo irish, etc.) then most will end up with white chest/toes or less white. Also S/S dogs can show small white marks. This is normally congenital residual white (and not genetic) and this may also be the cause of small white marks in some S/sp dogs. Some S/sp appear phenotypically solid in color. Please note, that in some breeds other factors such as Merle may produce patterns that are similar to what is seen in a homozygous (two copies) piebald.
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Test Reported : M LOCUS (MERLE/DAPPLE) Result : m [171bp] / Mh [269 to 280bp] - 'HARLEQUIN MERLE' CAN EXPRESS AS MINIMAL MERLE or CLASSIC HERDING PATTERN 1 Gene : SILV Variant Detected : 250 base pair SINE insertion, oligo(dA)-rich tails with length polymorphism. Detects and reports all the 7 alleles on the M Locus (Mh, M, Ma+, Ma, Mc+, Mc and m) The base pair scale determines the risk and hence the 'type' of Merle. Based on research conducted by Langevin et al; the following breeding combinations are recommended. An Harlequin merle is only considered LOW RISK for breeding with other non-merles, or Mc(cryptic). ie. No pigment is diluted to white and no impairments. In general Harlequin Merles should not be bred with any other Merle combinations and they tend to be medium to high risk
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Test Reported : LONG HAIR GENE (CANINE C95F) Result : POSITIVE - SHOWING THE PHENOTYPE 1 Gene : FGF5 Variant Detected : p.Cys95Phe c284G>T (Point Mutation) The phenotype/trait tested is present. Please Note this can vary from breed to breed and within breed.
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Test Reported : SHEDDING (MC5R) Result : shd/shd [HIGH SHEDDING] - TWO COPIES OF THE shd (MC5R) VARIANT DETECTED REFER TO R151W (IC) FOR LEVEL OF SHEDDING 1 Gene : MC5R Variant Detected : The dog will (may) exhibit a low leves of shedding. Please Note: this level is also dependent on the furnishing allele. If the dog has no IC (R151W) phenotype will be low shedding.
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Test Reported : COAT COMPOSITION CFA28 GENE (DOUBLE/SINGLE COAT) Result : udc/udc - TWO COPIES OF THE DOUBLE COAT (DENSEUNDERCOAT) PHENOTYPE DETECTED 1 Gene : CFA28 Variant Detected : Dog will have a shorter outer coat and will be dense and woolly in texture.
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Test Reported : CURLY COAT/HAIR CURL (KRT71 R151W) Result : NEGATIVE FOR THE KRT71 R151W (CU/CU) VARIANT - NOT SHOWING THE CURLY COAT PHENOTYPE 1 Gene : KRT71 (R151W) Variant Detected : chr27:2539211-2539211: c.451C>T Please note there are other additional curly coat genes/variant that will impact the curly coat phenotype.
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Test Reported : CURLY COAT PHENOTYPE (KRT71 - P.SER422ARGFSTER) Result : NEGATIVE FOR THE KRT71 (p.Ser422Argf sTer) VARIANT - NOT SHOWING THE CURLY COAT (C2) PHENOTYPE 1 Gene : KRT71 Variant Detected : c.1266_1273delCCTGAAGCinsACA p. Ser422ArgfsTer
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Test Reported : BODY SIZE IGSF1 "BULKY GENE" Result : NO COPY INSULIN LIKE GROWTH FACTOR (IGF1R) - ASSOCIATED WITH A REDUCTION of BODY (BULKY) SIZE 1 Gene : IGSF1 Variant Detected : chrX.g.102369488-102369489insAAC, p.Asp376_Glu377insAsn, Chromosome X The IGF1R allele in an ancestral allele found in larger-sized breeds.
Understanding Hip Dysplasia
What is hip dysplasia?
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Hip dysplasia is a deformity of the hip that occurs during growth. The hip joint is a ball and socket joint. During growth, both the ball (the head of the femur, or thighbone) and the socket in the pelvis (acetabulum) must grow at equal rates.
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What causes it?
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Hip dysplasia is a genetic disease that is affected by factors such as diet, environment, exercise, growth rate, muscle mass, and hormones. As this disease is most commonly seen in large breed dogs, these puppies should be kept at a normal, lean weight during growth, not overfed or encouraged to grow big.
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What can a breeder do to prevent hip dysplasia?
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While genetics play a significant role in the development of hip dysplasia, it is not necessarily always the breeder’s fault. Let’s face it, the expression of genetics and the combinations of DNA in each individual dog is biologically random. Breeders cannot control the expression of genes, they can only choose not to breed with affected dogs. Scientists have been looking for Genes that are responsible for the development of hip dysplasia in dogs for decades without success.
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Hip dysplasia, however, is known to be hereditary and can be passed down from one generation to the next. There are 12 different genes responsible for coding for this disease and the exist on the genome in different locations. Some genes are closely related to the behavioural traits that are very desirable in pet dogs, so it is virtually impossible to eliminate all of the markers that code for Hip Dysplasia.
In addition, the severity of hip dysplasia can vary depending on various factors, such as environmental conditions, diet, exercise, and other health factors.
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A responsible breeder will typically try to avoid breeding dogs with known hip dysplasia, and they may also conduct health screenings to identify and remove dogs with the condition from their breeding program. This is where the hip scoring programs are very helpful. A responsible breeder will always score their breeding dog’s hips and know their dog’s hip score numbers.
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However, even with careful breeding practices, hip dysplasia can still occur due to the complexity of the condition and its various contributing factors.
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Ultimately, it is not possible to prevent hip dysplasia, and both responsible breeders and owners should work together to minimise the risk of the condition developing in their dogs through proper care, nutrition, and exercise.
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In conclusion, You can’t breed against hip dysplasia. It’s mostly caused by environmental factors. No “purebred” population is or will ever be free from hip dysplasia. So even if the parents, grandparents, and great grandparents have good hip scores, the pup can still develop hip dysplasia due to environmental factors.