The Ins and Outs of Pedigree Analysis, Genetic
Diversity, and Genetic Disease Control

by: Jerold S. Bell, DVM

PART II

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Pedigree Analysis       Breeding By Appearance

Pedigree Analysis

Geneticists' and breeders' definitions of inbreeding vary. A geneticist views inbreeding as a measurable number that goes up whenever there is a common ancestor between the sire's and dam's sides of the pedigree; a breeder considers inbreeding to be close inbreeding, such as father-to-daughter or brother-to-sister matings. A common ancestor, even in the eighth generation, will increase the measurable amount of inbreeding in the pedigree.

The Inbreeding Coefficient (or Wright's coefficient) is an estimate of the percentage of all the variable gene pairs that are homozygous due to inheritance from common ancestors. It is also the average chance that any single gene pair is homozygous due to inheritance from a common ancestor. In order to determine whether a particular mating is an outbreeding or inbreeding relative to your breed, you must determine the breed's average inbreeding coefficient. The average inbreeding coefficient of a breed will vary depending on the breed's popularity or the age of its breeding population. A mating with an inbreeding coefficient of 14 percent based on a ten generation pedigree, would be considered moderate inbreeding for a Labrador Retriever (a popular breed with a low average inbreeding coefficient), but would be considered outbred for an Irish Water Spaniel (a rare breed with a higher average inbreeding coefficient).

For the calculated inbreeding coefficient of a pedigree to be accurate, it must be based on several generations. Inbreeding in the fifth and later generations (background inbreeding) often has a profound effect on the genetic makeup of the offspring represented by the pedigree. In studies conducted on dog breeds, the difference in inbreeding coefficients based on four versus eight generation pedigrees varied immensely. A four generation pedigree containing 28 unique ancestors for 30 positions in the pedigree could generate a low inbreeding coefficient, while eight generations of the same pedigree, which contained 212 unique ancestors out of 510 possible positions, had a considerably higher inbreeding coefficient. What seemed like an outbred mix of genes in a couple of generations, appeared as a linebred concentration of genes from influential ancestors in extended generations.

The process of calculating coefficients is too complex to present here. Several books that include how to compute coefficients are indicated at the end of this article; some computerized canine pedigree programs also compute coefficients. The analyses in this article were performed using CompuPed, by RCI Software.

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Pedigree of Gordon Setter: "Laurel Hill Braxfield Bilye"

(a spayed female owned by Dr. Jerold and Mrs. Candice Bell, and co-bred by Mary Poos and Laura Bedford.)

          Dual CH Loch Adair Monarch
        CH Sutherland MacDuff
          CH Sutherland Dunnideer Waltz
      CH Sutherland Gallant  
          CH Afternod Kyle of Sutherland
        CH Sutherland Pavane
          CH Sutherland Xenia
    CH Loch Adair Foxfire
          Afternod Fidemac
        CH Loch Adair Peer of Sutherland, CD
          CH Wee Laurie Adair
      CH Sutherland Lass of Shambray
          CH Afternod Callant
        CH Afternod Karma
          CH Afternod Amber
  CH Braxfield Andrew of Aberdeen
          Afternod Fidemac
        Am.Cn.CH Afternod Scot of Blackbay, CD
          CH Afternod Alder
      Am.Cn.CH Forecast Trade Winds, CD
          Bud O'Field Brookview
        CH Oak Lynn's Bonnie Bridget
          Borderland Taupie
    CH Afternod Ember VI, CD
          CH Afternod Simon
        Afternod Profile of Sark
          CH Afternod Heiress of Sark
      CH Afternod Ember V  
          CH Afternod Callant
        CH Afternod Maud MacKenzie
          CH Afternod Amber
LAUREL HILL BRAXFIELD BILYE  
          CH Afternod Callant
        Dual CH Loch Adair Monarch
          Loch Adair Diana of Redchico
      CH Sutherland MacDuff  
          CH Afternod Anagram
        CH Sutherland Dunnideer Waltz
          CH Hi‑Laway's Calopin
    CH Kendelee Pendragon    
          CH Afternod Callant
        CH Wee Jock Adair, CD
          Loch Adair Diana of Redchico
      CH Afternod Nighean Kendelee
          CH Afternod Simon
        CH Afternod Wendee
          Afternod Dee of Aberdeen
  CH Halcyon Belle‑Amie      
          Dual CH Loch Adair Monarch
        CH Sutherland MacDuff
          CH Sutherland Dunnideer Waltz
      CH Sutherland Gallant  
          CH Afternod Kyle of Sutherland
        CH Sutherland Pavane
          CH Sutherland Xenia
    CH Loch Adair Firefly, WD    
          Afternod Fidemac
        CH Loch Adair Peer of Sutherland, CD
          CH Wee Laurie Adair
      CH Sutherland Lass of Shambray
          CH Afternod Callant
        CH Afternod Karma
          CH Afternod Amber

To visualize some of these concepts, please refer to the above pedigree. Linebred ancestors in this pedigree are in color, to help visualize their contribution. The paternal grandsire, CH Loch Adair Foxfire, and the maternal granddam, CH Loch Adair Firefly WD, are full siblings, making this a first-cousin mating. The inbreeding coefficient for a first cousin mating is 6.25%, which is considered a mild level of inbreeding. Lists of inbreeding coefficients based on different types of matings are shown in the table below.

Coefficients for Sample Matings

Type of Mating Inbreeding
Coefficient
Percentage of Blood
to Listed Ancestor
Parent x Offspring 25.00% Parent 75.0%
Full Brother x Sister 25.00% Common Grandparent 50.0%
Father x Granddaughter 12.50% Father 62.5%
Half-Brother x Half-Sister 12.50% Common Grandparent 50.0%
Uncle x Niece 12.50% Common Grandparent 37.5%
First-Cousin Mating 6.25% Common GreatGrandparent 25.0%

In Bilye's pedigree, an inbreeding coefficient based on four generations computes to 7.81%. This is not significantly different from the estimate based on the first-cousin mating alone. Inbreeding coefficients based on increasing numbers of generations are as follows: five generations, 13.34%; six generations, 18.19%; seven generations, 22.78%; eight generations, 24.01%; ten generations, 28.63%; and twelve generations, 30.81%. The inbreeding coefficient of 30.81 percent is more than what you would find in a parent-to-offspring mating (25%). As you can see, the background inbreeding has far more influence on the total inbreeding coefficient than the first-cousin mating, which only appears to be its strongest influence.

Knowledge of the degree of inbreeding in a pedigree does not necessarily help you unless you know whose genes are being concentrated. The percent blood coefficient measures the relatedness between an ancestor and the individual represented by the pedigree. It estimates the probable percentage of genes passed down from a common ancestor. We know that a parent passes on an average of 50% of its genes, while a grandparent passes on 25%, a great-grandparent 12.5%, and so on. For every time the ancestor appears in the pedigree, its percentage of passed-on genes can be added up and its "percentage of blood" estimated.

In many breeds, an influential individual may not appear until later generations, but then will appear so many times that it necessarily contributes a large proportion of genes to the pedigree. This can occur in breeds, due to either prolific ancestors (usually stud dogs), or with a small population of dogs originating the breed. Based on a twenty-five generation pedigree of Bilye, there are only 852 unique ancestors who appear a total of over twenty-million times.

Pedigree Analysis of Laurel Hill Braxfield Bilye (computed to 25 generations)

Linebred Ancesters Percentage of blood Appearance in pedigree from 1st Generation # times in pedigree
CH Afternod Drambuie 33.20% 6 33
CH Afternod Sue 27.05% 7 61
CH Afternod Callant 26.56% 5 13
       
"Grand-Parents" 25.00% 2 1
CH Sutherland Gallant 25.00% 3 2
CH Sutherland MacDuff 25.00% 3 3
CH Sutherland Lass of Shambray 25.00% 3 2
CH Wilson's Corrie, CD 22.30% 7 200
CH Afternod Buchanon 20.22% 7 48
Loch Adair Diana of Redchico 17.97% 5 12
CH EEG's Scotia Nodrog Rettes 17.76% 8 181
Afternod Ember of Gordon Hill 17.14% 8 76
CH Afternod Hickory 16.21% 6 27
CH Black Rogue of Serlway 15.72% 9 480
CH Afternod Woodbine 14.45% 6 15
CH Fast's Falcon of Windy Hill 13.82% 8 66
Afternod Fidemac 13.67% 5 7
CH Page's MacDonegal II 13.43% 7 56
Afternod Hedera 13.38% 7 56
CH Downside Bonnie of Serlway 12.90% 10 708
Peter of Crombie 12.76% 11 3,887
       
"Great-Grand-Parents" 12.50% 3 1
CH Afternod Amber 12.50% 5 5
Ben of Crombie 11.83% 11 7,584
Stylish William 11.18% 13 23,764
Stylish Billie 11.08% 14 70,542
Stylish Ranger 10.80% 15 297,331
CH Afternod Kate 10.74% 6 17
Heather Grouse 10.61% 16 1,129,656
Afternod Hedemac 10.45% 7 28

The above analysis shows the ancestral contribution of the linebred ancestors in Bilye's pedigree. Those dogs in color were present in the five-generation pedigree. CH Afternod Drambuie has the highest genetic contribution of all of the linebred ancestors. He appears 33 times between the sixth and eighth generations. One appearance in the sixth generation contributes 1.56% of the genes to the pedigree. His total contribution is 33.2% of Bilye's genes, second only to the parents. Therefore, in this pedigree, the most influential ancestor doesn't even appear in the five-generation pedigree. His dam, CH Afternod Sue, appears 61 times between the seventh and tenth generations, and contributes more genes to the pedigree than a grandparent.

Foundation dogs that formed the Gordon Setter breed also play a great role in the genetic makeup of today's dogs. Heather Grouse appears over one million times between the sixteenth and twenty-fifth generations, and almost doubles those appearances beyond the twenty-fifth generation. He contributes over ten percent of the genes to Bilye's pedigree. This example shows that the depth of the pedigree is very important in estimating the genetic makeup of an individual. Any detrimental recessive genes carried by Heather Grouse or other founding dogs, would be expected to be widespread in the breed.

Breeding by Appearance

Many breeders plan matings solely on the appearance of a dog and not on its pedigree or the relatedness of the prospective parents. This is called assortative mating. Breeders use positive assortative matings (like-to-like) to solidify traits, and negative assortative matings (like-to-unlike) when they wish to correct traits or bring in traits their breeding stock may lack.

Some individuals may share desirable characteristics, but they inherit them differently. This is especially true of polygenic traits, such as ear set, bite, or length of forearm. Breeding two phenotypically similar but genotypically unrelated dogs together would not necessarily reproduce these traits. Conversely, each individual with the same pedigree will not necessarily look or breed alike.

Breedings should not be planned solely on the basis of the pedigree or appearance alone. Matings should be based on a combination of appearance and ancestry. If you are trying to solidify a certain trait - like topline - and it is one you can observe in the parents and the linebred ancestors of two related dogs, then you can be more confident that you will attain your goal.

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Go to PART III

CREDITS:

Jerold S. Bell, DVM, Clinical Associate Professor, Department of Clinical Sciences, Tufts University School of Veterinary Medicine.

Dr. Bell is director of the Clinical Veterinary Genetics Course for the Tufts University School of Veterinary Medicine and national project administrator for numerous genetic disease control programs of pure-bred dogs. He performs genetic counseling through Veterinary Genetic Counseling and practices small animal medicine in Connecticut. He and his wife breed Gordon Setters.

This is an updated version of an article that originally appeared in the American Kennel Club Gazette in September 1992 entitled, "Getting What You Want From Your Breeding Program."