Abstract
In this study, 10 X-STRs: DXS6809, DXS7423, GATA172D05, DXS6789, DXS9902, DXS7132, GATA31E08, DXS7133, DXS9898 and DXS8378 were analyzed in a population sample of Afro-descendants of the Department of Chocó—Colombia. A total of 285 individuals not biologically related were analyzed. All loci studied were in Hardy–Weinberg equilibrium and the markers presented high levels of discrimination power (DP) in men and women, and a power of exclusion (PE) set higher than 99.99% for both trios (father–mother–daughter) and duos (father–daughter).
Keywords
1. Introduction
In the last two decades the use of X-chromosomal markers (X-STRs) in forensics science has increased worldwide [
1
, 2
, 3
, 4
]. The X-STRs play an important role in the complex paternity cases and in estimation of genetic distances, moreover, these markers are used in human identification when the STRs located on the autosomal chromosomes (A-STRs) are insufficient, in particular cases of relationship analysis, when the offspring is female [[2]
]. The usefulness of X-STR in forensic practice and in paternity cases is mainly to establish the relation between father and daughter, grandmother and granddaughter, father–mother–daughter and sibling relationship of paternal origin between women [[2]
]. The use of X-chromosomal markers allows the elucidation of complex cases, such as the ones mentioned before, that currently are increasing worldwide.2. Materials and methods
For this study, we used DNA of 285 not biologically related individuals who were born in Chocó—Colombia. The DNA was extracted from whole blood by the method of salting-out [
[5]
]. The X-STRs were amplified using an MJ Research thermal cycler PTC-100 in two multiplex reactions, one comprising seven systems (DXS6789, DXS9902, DXS7132, GATA31E08, DXS7133, DXS9898 and DXS8378) and the other three systems (DXS6809, GATA172D05 and DXS7423). The primers and conditions of PCR were performed as recommended by the GHEP-ISFG [[4]
]. Genotyping was performed through comparison with allelic ladders donated by Dra Leonor Gusmão and DNA control reference samples 9947A, K562 (Promega Corporation, Madison, WI, USA). Allelic frequencies, Hardy–Weinberg equilibrium test in female samples and linkage disequilibrium test in male samples were calculated using software ARLEQUIN ver. 3.0 [[6]
]. Statistics for forensic efficiency evaluation of each locus, namely MEC in trios involving daughters (MECT) as well as in father/daughter duos (MECD), and power of discrimination in females (PDF) and in males (PDM) were calculated according to Desmarais et al. [[7]
].3. Results and discussion
Allelic frequencies for the 10 X-STR and the parameters of forensic interest for the population sample of Choco—Colombia are shown in Table 1. The sample population presented great genetic diversity within the 10 X-STR studied. Although DXS6789 and DXS6809 markers showed the highest values for forensic parameters, in general, all the markers used in this study exhibit appropriate values for these parameters to be used in forensic genetics. The absence of linkage disequilibrium that was found in all the X-STR loci in this study, suggesting no significant associations between them and therefore can be considered as loci of independent segregation with high probability of recombination [
[4]
]. The study of these X-STRs in the population of Chocó—Colombia allow us to establish a database for X chromosome markers, that can be used in human identification and in the establishment of complex biological relations, especially in cases where the disputed child is female.Table 1Allele frequency distribution in an Afro-descendant population sample of the Department of Chocó—Colombia and forensic parameters; expected probability of exclusion in trios involving daughters (MECT), expected probability of exclusion in mother/son duos (MECD), power of discrimination in females (PDF) and power of discrimination in males (PDM). Minimum frequency (MF), observed (Ho) and expected (He) heterozygosity and p values for Hardy Weinberg test (P-HW) in female samples.
Alleles | DXS 8378 | DXS 9898 | DXS 7133 | GATA31E08 | GATA172D05 | DXS 7423 | DXS 6809 | DXS 7132 | DXS 9902 | DXS 6789 |
---|---|---|---|---|---|---|---|---|---|---|
6 | 0.0024 | 0.1726 | ||||||||
7 | 0.0047 | 0.0142 | 0.0355 | |||||||
8 | 0.0047 | 0.0355 | 0.1702 | 0.0024 | ||||||
8.3 | 0.0686 | |||||||||
9 | 0.0024 | 0.0165 | 0.1702 | 0.1489 | 0.2931 | 0.0449 | ||||
10 | 0.3191 | 0.0993 | 0.1679 | 0.1702 | 0.1418 | 0.0520 | ||||
11 | 0.3735 | 0.1111 | 0.5745 | 0.0946 | 0.1348 | 0.0095 | 0.3168 | |||
12 | 0.2766 | 0.4232 | 0.0733 | 0.2884 | 0.0520 | 0.0449 | 0.3593 | |||
12.1 | 0.0024 | |||||||||
13 | 0.0284 | 0.1868 | 0.0095 | 0.1702 | 0.0662 | 0.3097 | 0.2151 | 0.0024 | ||
13.3 | 0.0118 | |||||||||
14 | 0.0733 | 0.0686 | 0.4232 | 0.3641 | 0.0095 | 0.0189 | ||||
14.3 | 0.0024 | |||||||||
15 | 0.0095 | 0.3783 | 0.2199 | 0.1560 | ||||||
16 | 0.0851 | 0.0307 | 0.1206 | |||||||
16.3 | 0.0047 | |||||||||
17 | 0.0449 | 0.0095 | 0.0095 | |||||||
18 | 0.0071 | 0.0307 | ||||||||
19 | 0.0638 | |||||||||
20 | 0.2459 | |||||||||
21 | 0.2057 | |||||||||
22 | 0.1324 | |||||||||
23 | 0.0095 | |||||||||
24 | 0.0047 | |||||||||
27 | 0.0024 | |||||||||
28 | 0.0142 | |||||||||
29 | 0.0307 | |||||||||
30 | 0.0591 | |||||||||
31 | 0.1111 | |||||||||
32 | 0.1608 | |||||||||
33 | 0.2813 | |||||||||
34 | 0.1678 | |||||||||
35 | 0.1135 | |||||||||
36 | 0.0426 | |||||||||
37 | 0.0165 | |||||||||
MF | 0.0203 | 0.0214 | 0.0186 | 0.0206 | 0.0219 | 0.0193 | 0.0216 | 0.0209 | 0.0214 | 0.0221 |
He | 0.6849 | 0.7774 | 0.6147 | 0.8295 | 0.8222 | 0.6640 | 0.8455 | 0.7200 | 0.7172 | 0.8345 |
Ho | 0.7609 | 0.7681 | 0.6232 | 0.7826 | 0.8551 | 0.6884 | 0.8406 | 0.7971 | 0.8261 | 0.8623 |
P-HW | 0.0775 | 0.6386 | 0.6343 | 0.3822 | 0.5379 | 0.9655 | 0.5228 | 0.0911 | 0.4514 | 0.8015 |
PDM | 0.6813 | 0.7533 | 0.6074 | 0.8215 | 0.8131 | 0.6642 | 0.8349 | 0.7200 | 0.7194 | 0.8353 |
0.7974 | 0.8793 | 0.7035 | 0.9363 | 0.9302 | 0.7759 | 0.9455 | 0.8436 | 0.8429 | 0.9457 | |
MECT | 0.5803 | 0.6935 | 0.4651 | 0.7897 | 0.7782 | 0.5529 | 0.8077 | 0.6420 | 0.6411 | 0.8081 |
MECD | 0.4684 | 0.5920 | 0.4144 | 0.6814 | 0.6669 | 0.4593 | 0.7041 | 0.5287 | 0.5272 | 0.7022 |
Conflict of interest
None.
References
- Validation of the STR DXS7424 and the linkage situation on the X-chromosome.J. Forensic Sci. Int. 2001; 125: 217-222
- Use of X-linked markers for forensic purposes.Int. J. Legal Med. 2003; 117: 67-74
- Allele distribution of three X-chromosome STR loci in an Antioquian population sample.Forensic Sci. Int. Genet. Suppl. Ser. 2008; 1: 140-141
- A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations.Int. J. Legal Med. 2009; 123: 227-234
- A single salting out procedure for extracting DNA from human nucleated cells.Nucleic Acid Res. 1988; 16: 1215
- Arlequin ver. 3.0: an integrated software package for population genetics data analysis.Evol. Bioinform. Online. 2005; 1: 47-50
- Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA).Int. J. Legal Med. 1998; 43: 1046-1049
Article info
Publication history
Published online: September 23, 2015
Accepted:
September 19,
2015
Received:
August 12,
2015
Identification
Copyright
© 2015 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.