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.
Sample
Allele
HinfI
Repeat types
Fnu4HI
Comments
1
Trio
1
Mother-18 allele 1
18
Positive
A
B
C
D
D
E
C
H
H¶
I
I
H
I
J
I
I
L
G
Negative
Possible progenitor
1
*Child-17 allele 1
17
Positive
A
B
C
D
D
E
C
H
I
I
H
I
J
I
I
L
G
Negative
Deletion of one repeat unit
1
Father-18 allele 1
18
Positive
A
B
C
D
D
E
C
H
H¶
I
I
H
I
J
I
I
L
G
Negative
Possible progenitor
1
Child-18 allele 2
18
Positive
A
B
C
D
D
E
C
H
H
I
I
H
I
J
I
I
L
G
Negative
1
Mother-18 allele 2
18
Positive
A
B
C
D
D
E
C
H
H
I
I
H
I
J
I
I
L
G
Negative
1
Father-22 allele 2
22
Positive
A
B
C
D
D
E
C
H
H
H
I
J
I
I
I
H
I
J
I
I
L
G
Negative
2
Trio
3
Father-18 allele 1
18
Positive
A
B
C
D
D
E
C
H
H
I
I
H
I
J
I
I
L
G
Negative
Possible progenitor
3
*Child-19 allele 2
19
Positive
A
B
C
D
D
D¶
E
C
H
H
I
I
H
I
J
I
I
L
G
Negative
Duplication of one repeated unit
3
Mother-18 allele 1
18
Positive
A
B
C
D
D
E
C
H
H
I
I
H
I
J
I
I
L
G
Negative
Possible progenitor
3
Child-18 allele 1
18
Positive
A
B
C
D
D
E
C
H
H
I
I
H
I
J
I
I
L
G
Negative
3
Mother-25 allele 2
25
Negative
A
B
C
D
D
D
E
F
C
G
H
I
I
I
J
H
I
J
H
I
J
I
I
L
G
Positive
3
Father-31 allele 2
31
Positive
A
B
C
D
D
E
F
C
G
H
I
I
H
I
H
I
I
K
I
K
I
K
I
I
H
I
J
I
I
L
G
Negative
3
Trio
7
*Child-19 allele 1
19
Negative
A
B
C
D
E
F
C
G
H
I
I
J
H
I
J
I
I
L
G
Positive
Deletion of one repeated unit
7
Father-20 allele 1
20
Negative
A
B
C
D
E
F
C
G
H
I
I
I¶
J
H
I
J
I
I
L
G
Positive
Progenitor
7
Child-24 allele 2
24
Negative
A
B
C
D
D
E
F
C
G
H
I
I
I
J
H
I
J
H
I
J
I
I
L
G
Positive
7
Mother-24 allele 1
24
Negative
A
B
C
D
D
E
F
C
G
H
I
I
I
J
H
I
J
H
I
J
I
I
L
G
Positive
Donor, child allele 2
7
Father-24 allele 2
24
Negative
A
B
C
D
D
E
F
C
G
H
I
I
I
J
H
I
J
H
I
J
I
I
L
G
Positive
7
Mother-31 allele 2
31
Positive
A
B
C
D
D
E
F
C
G
H
I
I
H
K
I
K
H
K
I
K
I
K
I
I
H
I
J
I
I
L
G
Negative
4
Trio
8
*Child-21 allele 1
21
Negative
A
B
C
D
E
F
F¶
C
G
H
I
I
I
J
H
I
J
I
I
L
G
Positive
Duplication of one repeated unit
8
Mother-20 allele 1
20
Negative
A
B
C
D
E
F
C
G
H
I
I
I
J
H
I
J
I
I
L
G
Positive
Progenitor
8
Child-31 allele 2
31
Positive
A
B
C
D
D
E
F
C
G
H
I
I
H
I
H
I
I
K
I
K
I
K
I
I
H
I
J
I
I
L
G
Negative
8
Father-31 allele 2
31
Positive
A
B
C
D
D
E
F
C
G
H
I
I
H
I
H
I
I
K
I
K
I
K
I
I
H
I
J
I
I
L
G
Negative
Donor, child allele 2
8
Father-26 allele 1
26
Positive
A
B
C
D
D
E
F
C
G
H
I
I
H
I
H
I
I
I
I
L
S
J
I
I
L
G
Negative
8
Mother-31 allele 2
31
Positive
A
B
C
D
D
E
F
C
G
H
I
I
H
K
I
K
H
K
I
K
I
K
I
I
H
I
J
I
I
L
G
Negative
5
Trio
10
Mother-28 allele 2
28
Positive
A
B
C
D
D
E
C
G
H
I
K
K
I
I¶
H¶
I
I
H
I
J
I
H
I
J
I
I
L
G
Negative
Possible progenitor
10
*Child-26 allele 1
26
Positive
A
B
C
D
D
E
C
G
H
I
K
K
I
I
I
H
I
J
I
H
I
J
I
I
L
G
Negative
Deletion of two repeated units
10
Father-28 allele 1
28
Positive
A
B
C
D
D
E
C
G
H
I
K
K
I
I¶
H¶
I
I
H
I
J
I
H
I
J
I
I
L
G
Negative
Possible progenitor
10
Child-28 allele 2
28
Positive
A
B
C
D
D
E
C
G
H
I
K
K
I
I
H
I
I
H
I
J
I
H
I
J
I
I
L
G
Negative
10
Mother-24 allele 1
24
Positive
A
B
C
D
D
E
C
G
H
I
K
K
I
I
K
I
I
H
I
J
I
I
L
G
Negative
Mother's sequence does not match child 26
10
Father-31 allele 2
31
Positive
A
B
C
D
D
E
F
C
G
H
I
I
H
K
I
K
H
K
I
K
I
K
I
I
H
I
J
I
I
L
G
Negative
6
Trio
11
Mother-24 allele 2
24
Negative
A
B
C
D
D
E
F
C
G
H¶
I
I
I
J
H
I
J
H
I
J
I
I
L
G
Positive
Possible progenitor
11
*Child-23 allele 1
23
Negative
A
B
C
D
D
E
F
C
G
I
I
I
J
H
I
J
H
I
J
I
I
L
G
Positive
Deletion of one repeated unit
11
Father-24 allele 1
24
Negative
A
B
C
D
D
E
F
C
G
H¶
I
I
I
J
H
I
J
H
I
J
I
I
L
G
Positive
Possible progenitor
11
Child-24 allele 2
24
Negative
A
B
C
D
D
E
F
C
G
H
I
I
I
J
H
I
J
H
I
J
I
I
L
G
Positive
11
Mother-18 allele 1
18
Positive
A
B
C
D
D
E
C
H
H
I
I
H
I
J
I
I
L
G
Negative
11
Father-31 allele 2
31
Positive
A
B
C
D
D
E
F
C
G
H
I
I
H
K
I
K
H
K
I
K
I
K
I
I
H
I
J
I
I
L
G
Negative
7
Trio
12
*Child-19 allele 1
19
Positive
A
B
C
D
D
E
C
H
H
I
I
H
I
J
I¶
I
I
L
G
Negative
Duplication of one repeated unit
12
Father-18 allele 1
18
Positive
A
B
C
D
D
E
C
H
H
I
I
H
I
J
I
I
L
G
Negative
Progenitor
12
Child-20 allele 2
20
Negative
A
B
C
D
E
F
C
G
H
I
I
I
J
H
I
J
I
I
L
G
Positive
12
Mother-20 allele 2
20
Negative
A
B
C
D
E
F
C
G
H
I
I
I
J
H
I
J
I
I
L
G
Positive
Donor, child allele 2
12
Mother-18 allele 1
18
Positive
A
B
C
D
D
E
C
H
H
I
I
H
I
J
I
I
L
G
Negative
12
Father-31 allele 2
31
Positive
A
B
C
D
D
E
F
C
G
H
I
I
H
I
H
I
I
K
I
K
I
K
I
I
H
I
J
I
I
L
G
Negative
¶Represent the mutated region of the parental and child allele.
