Application of SifaInDel 45plex System in the Han and Mongolian Populations

doi:10.12116/j.issn.1004-5619.2022.520801

Abstract

Abstract:

Objective To investigate the genetic polymorphism of InDel loci in SifalnDel 45plex system in the Han population in Jiangsu Province and the Mongolian population in Inner Mongolia, and to evaluate the effectiveness of the system in forensic medicine. Methods SifaInDel 45plex system was used for genotyping in blood samples of 398 unrelated individuals from the above two populations, and allele frequencies and population genetic parameters of the two populations were calculated respectively. Eight intercontinental populations in the gnomAD database were used as reference populations. The genetic distances between the two studied populations and eight reference populations were calculated based on the allele frequencies of 27 autosomal-InDels （A-InDels）. The phylogenetic trees and multidimensional scaling （MDS） analysis diagrams were constructed accordingly. Results Among two studied populations, the 27 A-InDels and 16 X-InDels showed no linkage disequilibrium between each other and the allele frequency distributions were in Hardy-Weinberg equilibrium. The CDP of the 27 A-InDels in two studied populations were all higher than 0.999 999 999 9, and the CPE_trio were all less than 0.999 9. The CDP of the 16 X-InDels in Han in Jiangsu and Mongolian in Inner Mongolia female and male samples were 0.999 997 962, 0.999 998 389, and 0.999 818 940, 0.999 856 063, respectively. The CMEC_trio were all less than 0.999 9. The results of population genetics showed that the Jiangsu Han nationality, Inner Mongolia Mongolian nationality and East Asian population clustered into one branch, showing closer genetic relationship. The other 7 intercontinental populations clustered into another group. And the above 3 populations displayed distant genetic relationships with the other 7 intercontinental populations. Conclusion The InDels in the SifaInDel 45plex system have good genetic polymorphism in the two studied populations, which can be used for forensic individual identification or as an effective complement for paternity identification, and to distinguish different intercontinental populations.

Key words: forensic genetics, genetic polymorphism, insertion/deletion （InDel）, genetic distance, phylogenetic tree, multidimensional scaling analysis

CLC Number:

DF795.2

Guang-yuan YANG, Chun-yan YUAN, Rui-yang TAO, Ruo-cheng XIA, Ya-li WANG, Xin-yu DONG, Si-yu CHAI, Li-ming WU, Zhi-wei JIANG, Ting-ting JIANG, Kai-qin CHEN, Cheng-tao LI, Li-qin CHEN. Application of SifaInDel 45plex System in the Han and Mongolian Populations[J]. Journal of Forensic Medicine, 2022, 38(6): 733-738.

Figures/Tables 4

References 31

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位点	汉族（n=200）					蒙古族（n=198）
位点	Ho	He	DP	PIC	PE	Ho	He	DP	PIC	PE
rs71953876	0.540 0	0.460 0	0.591 4	0.348 1	0.154 8	0.550 5	0.449 5	0.630 8	0.367 1	0.147 0
rs35332265	0.540 0	0.460 0	0.628 2	0.367 7	0.154 8	0.540 4	0.459 6	0.609 6	0.357 9	0.154 5
rs2308232	0.625 0	0.375 0	0.541 6	0.306 2	0.099 4	0.651 5	0.348 5	0.509 2	0.284 1	0.085 5
rs10666410	0.450 0	0.550 0	0.593 1	0.373 4	0.235 1	0.525 3	0.474 7	0.633 4	0.373 4	0.166 3
rs35248926	0.420 0	0.580 0	0.575 2	0.374 9	0.267 6	0.525 3	0.474 7	0.636 6	0.375 0	0.166 3
rs2308139	0.585 0	0.415 0	0.621 6	0.356 8	0.123 3	0.560 6	0.439 4	0.608 4	0.353 4	0.139 7
rs201273179	0.510 0	0.490 0	0.609 9	0.364 8	0.178 9	0.520 2	0.479 8	0.632 3	0.373 9	0.170 4
rs2308276	0.500 0	0.500 0	0.588 6	0.356 1	0.187 5	0.570 7	0.429 3	0.619 7	0.357 9	0.132 8
rs66879403	0.605 0	0.395 0	0.608 2	0.347 2	0.110 9	0.530 3	0.469 7	0.628 0	0.369 6	0.162 3
rs35833136	0.525 0	0.475 0	0.626 1	0.369 7	0.166 5	0.510 1	0.489 9	0.606 3	0.362 9	0.178 8
rs3033486	0.595 0	0.405 0	0.629 0	0.359 5	0.117 0	0.525 3	0.474 7	0.607 3	0.359 9	0.166 3
rs16458	0.510 0	0.490 0	0.624 9	0.372 5	0.178 9	0.525 3	0.474 7	0.621 9	0.367 5	0.166 3
rs3837647	0.470 0	0.530 0	0.606 2	0.373 8	0.215 1	0.505 1	0.494 9	0.627 4	0.375 0	0.183 1
rs10578778	0.565 0	0.435 0	0.591 7	0.343 5	0.136 7	0.530 3	0.469 7	0.581 5	0.344 7	0.162 3
rs2307661	0.495 0	0.505 0	0.619 7	0.373 6	0.191 9	0.500 0	0.500 0	0.614 3	0.369 6	0.187 5
rs1160953	0.535 0	0.465 0	0.632 9	0.371 1	0.158 7	0.500 0	0.500 0	0.617 0	0.371 0	0.187 5
rs2067373	0.460 0	0.540 0	0.576 2	0.361 4	0.225 0	0.449 5	0.550 5	0.589 2	0.371 6	0.235 6
rs112052995	0.540 0	0.460 0	0.632 8	0.370 1	0.154 8	0.520 2	0.479 8	0.618 9	0.367 1	0.170 4
rs112250269	0.545 0	0.455 0	0.598 0	0.350 7	0.151 1	0.550 5	0.449 5	0.615 8	0.359 2	0.147 0
rs3049448	0.560 0	0.440 0	0.610 4	0.354 6	0.140 2	0.505 1	0.494 9	0.593 0	0.357 2	0.183 1
rs2307963	0.585 0	0.415 0	0.574 7	0.330 6	0.123 3	0.661 6	0.338 4	0.520 6	0.291 3	0.080 6
rs66481141	0.590 0	0.410 0	0.589 4	0.338 4	0.120 1	0.520 2	0.479 8	0.583 9	0.348 4	0.170 4
rs66850318	0.565 0	0.435 0	0.573 2	0.333 0	0.136 7	0.525 3	0.474 7	0.596 7	0.354 2	0.166 3
rs2307507	0.480 0	0.520 0	0.592 4	0.363 7	0.205 6	0.500 0	0.500 0	0.612 7	0.368 8	0.187 5
rs1610878	0.575 0	0.425 0	0.619 0	0.356 8	0.129 9	0.555 6	0.444 4	0.621 2	0.361 1	0.143 3
rs2307805	0.520 0	0.480 0	0.600 6	0.357 5	0.170 6	0.560 6	0.439 4	0.592 5	0.344 7	0.139 7
rs2307783	0.620 0	0.380 0	0.528 2	0.298 3	0.102 2	0.585 9	0.414 1	0.558 1	0.320 7	0.122 8

位点	汉族（n=200）					蒙古族（n=198）
位点	Ho	He	DP	PIC	PE	Ho	He	DP	PIC	PE
rs71953876	0.540 0	0.460 0	0.591 4	0.348 1	0.154 8	0.550 5	0.449 5	0.630 8	0.367 1	0.147 0
rs35332265	0.540 0	0.460 0	0.628 2	0.367 7	0.154 8	0.540 4	0.459 6	0.609 6	0.357 9	0.154 5
rs2308232	0.625 0	0.375 0	0.541 6	0.306 2	0.099 4	0.651 5	0.348 5	0.509 2	0.284 1	0.085 5
rs10666410	0.450 0	0.550 0	0.593 1	0.373 4	0.235 1	0.525 3	0.474 7	0.633 4	0.373 4	0.166 3
rs35248926	0.420 0	0.580 0	0.575 2	0.374 9	0.267 6	0.525 3	0.474 7	0.636 6	0.375 0	0.166 3
rs2308139	0.585 0	0.415 0	0.621 6	0.356 8	0.123 3	0.560 6	0.439 4	0.608 4	0.353 4	0.139 7
rs201273179	0.510 0	0.490 0	0.609 9	0.364 8	0.178 9	0.520 2	0.479 8	0.632 3	0.373 9	0.170 4
rs2308276	0.500 0	0.500 0	0.588 6	0.356 1	0.187 5	0.570 7	0.429 3	0.619 7	0.357 9	0.132 8
rs66879403	0.605 0	0.395 0	0.608 2	0.347 2	0.110 9	0.530 3	0.469 7	0.628 0	0.369 6	0.162 3
rs35833136	0.525 0	0.475 0	0.626 1	0.369 7	0.166 5	0.510 1	0.489 9	0.606 3	0.362 9	0.178 8
rs3033486	0.595 0	0.405 0	0.629 0	0.359 5	0.117 0	0.525 3	0.474 7	0.607 3	0.359 9	0.166 3
rs16458	0.510 0	0.490 0	0.624 9	0.372 5	0.178 9	0.525 3	0.474 7	0.621 9	0.367 5	0.166 3
rs3837647	0.470 0	0.530 0	0.606 2	0.373 8	0.215 1	0.505 1	0.494 9	0.627 4	0.375 0	0.183 1
rs10578778	0.565 0	0.435 0	0.591 7	0.343 5	0.136 7	0.530 3	0.469 7	0.581 5	0.344 7	0.162 3
rs2307661	0.495 0	0.505 0	0.619 7	0.373 6	0.191 9	0.500 0	0.500 0	0.614 3	0.369 6	0.187 5
rs1160953	0.535 0	0.465 0	0.632 9	0.371 1	0.158 7	0.500 0	0.500 0	0.617 0	0.371 0	0.187 5
rs2067373	0.460 0	0.540 0	0.576 2	0.361 4	0.225 0	0.449 5	0.550 5	0.589 2	0.371 6	0.235 6
rs112052995	0.540 0	0.460 0	0.632 8	0.370 1	0.154 8	0.520 2	0.479 8	0.618 9	0.367 1	0.170 4
rs112250269	0.545 0	0.455 0	0.598 0	0.350 7	0.151 1	0.550 5	0.449 5	0.615 8	0.359 2	0.147 0
rs3049448	0.560 0	0.440 0	0.610 4	0.354 6	0.140 2	0.505 1	0.494 9	0.593 0	0.357 2	0.183 1
rs2307963	0.585 0	0.415 0	0.574 7	0.330 6	0.123 3	0.661 6	0.338 4	0.520 6	0.291 3	0.080 6
rs66481141	0.590 0	0.410 0	0.589 4	0.338 4	0.120 1	0.520 2	0.479 8	0.583 9	0.348 4	0.170 4
rs66850318	0.565 0	0.435 0	0.573 2	0.333 0	0.136 7	0.525 3	0.474 7	0.596 7	0.354 2	0.166 3
rs2307507	0.480 0	0.520 0	0.592 4	0.363 7	0.205 6	0.500 0	0.500 0	0.612 7	0.368 8	0.187 5
rs1610878	0.575 0	0.425 0	0.619 0	0.356 8	0.129 9	0.555 6	0.444 4	0.621 2	0.361 1	0.143 3
rs2307805	0.520 0	0.480 0	0.600 6	0.357 5	0.170 6	0.560 6	0.439 4	0.592 5	0.344 7	0.139 7
rs2307783	0.620 0	0.380 0	0.528 2	0.298 3	0.102 2	0.585 9	0.414 1	0.558 1	0.320 7	0.122 8

位点	汉族（n=200）					蒙古族（n=198）
位点	PIC	DP_female	DP_male	MEC_duo	MEC_trio	PIC	DP_female	DP_male	MEC_duo	MEC_trio
rs3048996	0.286 7	0.346 9	0.513 3	0.173 5	0.286 7	0.263 9	0.478 9	0.312 8	0.156 4	0.263 9
rs72513349	0.371 8	0.493 6	0.621 7	0.246 8	0.371 8	0.374 6	0.624 6	0.499 3	0.249 6	0.374 6
rs5903978	0.180 8	0.201 0	0.341 4	0.100 5	0.180 8	0.235 5	0.433 7	0.272 6	0.136 3	0.235 5
rs36094418	0.371 8	0.493 6	0.621 7	0.246 8	0.371 8	0.374 1	0.624 1	0.498 2	0.249 1	0.374 1
rs2308280	0.371 4	0.492 8	0.621 3	0.246 4	0.371 4	0.368 1	0.618 0	0.486 5	0.243 2	0.368 1
rs112397470	0.344 4	0.442 2	0.591 1	0.221 1	0.344 4	0.317 5	0.556 6	0.395 8	0.197 9	0.317 5
rs66554185	0.374 9	0.499 8	0.624 9	0.249 9	0.374 9	0.371 6	0.621 6	0.493 3	0.246 7	0.371 6
rs199686249	0.364 8	0.480 0	0.614 4	0.240 0	0.364 8	0.370 1	0.620 0	0.490 3	0.245 1	0.370 1
rs200177947	0.168 1	0.185 3	0.319 1	0.092 7	0.168 1	0.155 7	0.297 0	0.170 2	0.085 1	0.155 7
rs3050111	0.346 9	0.446 6	0.594 1	0.223 3	0.346 9	0.349 9	0.597 6	0.452 0	0.226 0	0.349 9
rs764329515	0.356 6	0.464 4	0.605 3	0.232 2	0.356 6	0.374 2	0.624 2	0.498 4	0.249 2	0.374 2
rs63345861	0.348 1	0.448 8	0.595 5	0.224 4	0.348 1	0.363 1	0.612 5	0.476 7	0.238 4	0.363 1
rs5902185	0.358 4	0.467 9	0.607 4	0.234 0	0.358 4	0.362 0	0.611 3	0.474 6	0.237 3	0.362 0
rs16397	0.325 3	0.409 0	0.567 1	0.204 5	0.325 3	0.352 4	0.600 6	0.456 8	0.228 4	0.352 4
rs67266231	0.346 9	0.446 6	0.594 1	0.223 3	0.346 9	0.351 7	0.599 7	0.455 3	0.227 7	0.351 7
rs36208458	0.184 9	0.206 1	0.348 5	0.103 1	0.184 9	0.203 0	0.379 7	0.229 3	0.114 6	0.203 0

位点	汉族（n=200）					蒙古族（n=198）
位点	PIC	DP_female	DP_male	MEC_duo	MEC_trio	PIC	DP_female	DP_male	MEC_duo	MEC_trio
rs3048996	0.286 7	0.346 9	0.513 3	0.173 5	0.286 7	0.263 9	0.478 9	0.312 8	0.156 4	0.263 9
rs72513349	0.371 8	0.493 6	0.621 7	0.246 8	0.371 8	0.374 6	0.624 6	0.499 3	0.249 6	0.374 6
rs5903978	0.180 8	0.201 0	0.341 4	0.100 5	0.180 8	0.235 5	0.433 7	0.272 6	0.136 3	0.235 5
rs36094418	0.371 8	0.493 6	0.621 7	0.246 8	0.371 8	0.374 1	0.624 1	0.498 2	0.249 1	0.374 1
rs2308280	0.371 4	0.492 8	0.621 3	0.246 4	0.371 4	0.368 1	0.618 0	0.486 5	0.243 2	0.368 1
rs112397470	0.344 4	0.442 2	0.591 1	0.221 1	0.344 4	0.317 5	0.556 6	0.395 8	0.197 9	0.317 5
rs66554185	0.374 9	0.499 8	0.624 9	0.249 9	0.374 9	0.371 6	0.621 6	0.493 3	0.246 7	0.371 6
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