Table 2: DNA sequence characteristics of seven trios illustrating the mutational event. The standard paternity test, called a trio, involves the child, mother, and alleged father. Allele represents the number of 16 base pairs repeat units making up the entire allele. The alphabets in each sample represent the arrangement of the repeat types making up each allele. The alphabet code for the repeat types and the corresponding bases is given in Table 1. HinfI and Fnu4HI are the two restriction site polymorphisms located on the 5′ and 3′ flanking regions of the repeats, respectively, and are concordant between the progenitor and the mutated allele. The star (*) represents the mutated allele and aligned with the progenitor wherever possible. The progenitors are identified based on the sequence characteristic, SNP polymorphism, and the smallest allele difference between the parent and child. For the four indeterminate mutations, the mutated allele is aligned with both the possible progenitors.

SampleAlleleHinfIRepeat typesFnu4HIComments

1Trio

1Mother-18 allele 118PositiveABCDDECHH IIHIJIILGNegativePossible progenitor
1 *Child-17 allele 117PositiveABCDDECHIIHIJIILGNegativeDeletion of one repeat unit
1Father-18 allele 118PositiveABCDDECHH IIHIJIILGNegativePossible progenitor
1Child-18 allele 218PositiveABCDDECHHIIHIJIILGNegative
1Mother-18 allele 218PositiveABCDDECHHIIHIJIILGNegative
1Father-22 allele 222PositiveABCDDECHHHIJIIIHIJIILGNegative

2Trio

3Father-18 allele 118PositiveABCDDECHHIIHIJIILGNegativePossible progenitor
3 *Child-19 allele 219PositiveABCDDD ECHHIIHIJIILGNegativeDuplication of one repeated unit
3Mother-18 allele 118PositiveABCDDECHHIIHIJIILGNegativePossible progenitor
3Child-18 allele 118PositiveABCDDECHHIIHIJIILGNegative
3Mother-25 allele 225NegativeABCDDDEFCGHIIIJHIJHIJIILGPositive
3Father-31 allele 231PositiveABCDDEFCGHIIHIHIIKIKIKIIHIJIILGNegative

3Trio

7 *Child-19 allele 119NegativeABCDEFCGHIIJHIJIILGPositiveDeletion of one repeated unit
7Father-20 allele 120NegativeABCDEFCGHIII JHIJIILGPositiveProgenitor
7Child-24 allele 224NegativeABCDDEFCGHIIIJHIJHIJIILGPositive
7Mother-24 allele 124NegativeABCDDEFCGHIIIJHIJHIJIILGPositiveDonor, child allele 2
7Father-24 allele 224NegativeABCDDEFCGHIIIJHIJHIJIILGPositive
7Mother-31 allele 231PositiveABCDDEFCGHIIHKIKHKIKIKIIHIJIILGNegative

4Trio

8 *Child-21 allele 121NegativeABCDEFF CGHIIIJHIJIILGPositiveDuplication of one repeated unit
8Mother-20 allele 120NegativeABCDEFCGHIIIJHIJIILGPositiveProgenitor
8Child-31 allele 231PositiveABCDDEFCGHIIHIHIIKIKIKIIHIJIILGNegative
8Father-31 allele 231PositiveABCDDEFCGHIIHIHIIKIKIKIIHIJIILGNegativeDonor, child allele 2
8Father-26 allele 126PositiveABCDDEFCGHIIHIHIIIILSJIILGNegative
8Mother-31 allele 231PositiveABCDDEFCGHIIHKIKHKIKIKIIHIJIILGNegative
5Trio

10Mother-28 allele 228PositiveABCDDECGHIKKII H IIHIJIHIJIILGNegativePossible progenitor
10 *Child-26 allele 126PositiveABCDDECGHIKKIIIHIJIHIJIILGNegativeDeletion of two repeated units
10Father-28 allele 128PositiveABCDDECGHIKKII H IIHIJIHIJIILGNegativePossible progenitor
10Child-28 allele 228PositiveABCDDECGHIKKIIHIIHIJIHIJIILGNegative
10Mother-24 allele 124PositiveABCDDECGHIKKIIKIIHIJIILGNegativeMother's sequence does not match child 26
10Father-31 allele 231PositiveABCDDEFCGHIIHKIKHKIKIKIIHIJIILGNegative

6Trio

11Mother-24 allele 224NegativeABCDDEFCGH IIIJHIJHIJIILGPositivePossible progenitor
11 *Child-23 allele 123NegativeABCDDEFCGIIIJHIJHIJIILGPositiveDeletion of one repeated unit
11Father-24 allele 124NegativeABCDDEFCGH IIIJHIJHIJIILGPositivePossible progenitor
11Child-24 allele 224NegativeABCDDEFCGHIIIJHIJHIJIILGPositive
11Mother-18 allele 118PositiveABCDDECHHIIHIJIILGNegative
11Father-31 allele 231PositiveABCDDEFCGHIIHKIKHKIKIKIIHIJIILGNegative

7Trio

12 *Child-19 allele 119PositiveABCDDECHHIIHIJI IILGNegativeDuplication of one repeated unit
12Father-18 allele 118PositiveABCDDECHHIIHIJIILGNegativeProgenitor
12Child-20 allele 220NegativeABCDEFCGHIIIJHIJIILGPositive
12Mother-20 allele 220NegativeABCDEFCGHIIIJHIJIILGPositiveDonor, child allele 2
12Mother-18 allele 118PositiveABCDDECHHIIHIJIILGNegative
12Father-31 allele 231PositiveABCDDEFCGHIIHIHIIKIKIKIIHIJIILGNegative

Represent the mutated region of the parental and child allele.