Journal List > Korean J Leg Med > v.38(4) > 1087953

Cho, Yu, Seo, Han, Kim, and Lee: Limitation of Regular Autosomal STR Testing for Paternity within an Isolated Population

Abstract

In order to determine paternity by genetic testing, the Paternity Index (PI) and probability of paternity are calculated using likelihood ratio method. However, when it is necessary, additional testing can be performed to validate the genetic relationship. This research demonstrates autosomal short tandem repeat (STR) results of Jeju Island population in order to determine genetic relationship. Two notable cases showed that despite the acceptable PI value obtained from STR testing, average of 12 mismatches were found in total of 169 autosomal single nucleotide polymorphism typing. Such cases imply that cautious statistical approach is necessary when determining genetic relationship, especially within an isolated population group. Moreover, this would suggest that a further research and investigation are needed in order to understand the population structure of Korea.

References

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Table 1.
The Paternity Index and Probability of Two Cases in STR Typing
Parameter Case 1 Case 2
D8S1179 5.556 3.125
D21S11 0.668 1.664
D7S820 1.645 2.101
CSF1PO 2.066 –*
D3S1358 1.468 1.425
TH01 2.045 –*
D13S317 2.377 2.242
D16S539 1.462 1.462
D2S1338 4.152 –*
D19S433 0.765 1.866
vWA 1.214 –*
TPOX 17.190 1.520
D18S51 2.874 2.385
D5S818 0.988 2.174
FGA 3.546 4.444
Cumulative Paternity Index 87,763.027 3,333.725
Probability of Paternity (%) 99.999 99.970

STR, short tandem repeat.

*Inapplicable alleles to paternity test due to lack of results from bone sample.

Table 2.
The Comparison of Potential Paternity Relation in Two Cases Using Commonly Typed Markers from Bone-Putative Daughter Pairs
Case No. Comparison trial* (bone-putative daughter) Typed SNP Compared marker Mismatch marker
Bone Putative daughter
1 1st–1st 121 149 86 13
  1st–2nd 121 151 85 13
  2nd–1st 107 149 73 10
  2nd–2nd 107 151 75 10
2 1st–1st 103 137 64 15
  1st–2nd 103 156 78 16
  2nd–1st 110 137 69 11
  2nd–2nd 110 156 80 12

*Crossover comparison of bone and putative daughter samples among replicates in two independent cases.

The number of common single nucleotide polymorphism (SNP) markers typed in both blood sample from a putative daughter and bone sample.

The number of non-identical SNP markers that are difficult to prove paternity relationships among the compared markers.

Table 3.
The Result of Unmatched SNP Markers Between Bone and Putative Daughter Sample in Two Cases
Locus Bone (1st) Bone (2nd) Putative daughter (1st) Putative daughter (2nd)
Case 1        
rs10495682 CC CC TT TT
rs17111166 GG GG AA AA
rs1998033 TT TT CC CC
rs2022958 GG GG TT TT
rs2241225 CC CC TT TT
rs2817438 CC TT TT
rs297013 AA GG GG
rs409492 AA GG GG
rs4907923 CC CC TT TT
rs547041 GG GG AA AA
rs7027501 CC CC TT TT
rs7031829* AA AA GG GG
rs9373570 GG GG AA AA
Case 2        
rs10448261 AA AA GG GG
rs1150461 GG GG AA AA
rs11689668 AA AA GG GG
rs1211780 GG GG TT TT
rs12534955 TT CC CC
rs12607426 GG GG AA AA
rs12672158 GG GG AA AA
rs12965342 CC CC TT TT
rs1340562 AA AA CC CC
rs1539525 AA AA GG GG
rs1546833 TT CC CC
rs2425427 CC CC TT TT
rs2613019 TT TT CC CC
rs2685441 CC CC TT
rs7031829* GG AA AA
rs914532 CC TT TT

SNP, single nucleotide polymorphism.*Common locus found in both cases.

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