The Polymorphism Of Y-SNP And Y-STR In Xinjiang Area And Its Application In Forensic Medicine

Objective: Because its non restructuring area’s DNA polymorphism appears steadily paternal inheritance with the family characteristics, Y chromosome also knowns as "Lineage Marking".This lineage markers in forensic science mixed stain analysis and investigation of cases involving male suspect, the suspect is associated with a particular family, thereby reducing the scope of the investigation, greatly to reduce the workload, improve efficiency. This topic studied region of Xinjiang Uygur, Kirgiz, Tajik and Kazak specific minority with 14 Y-SNP loci and Y filerplus kit 27 Y-STR loci loci detection, the Y-SNP and Y-STR markers on the basis of the data distribution characteristics are obtained, for Xinjiang minority genetic component description and case left the scene and male specimens individual race derived inference.Methods: Ministry of public security provide the blood of Uygur (n=132), Kirgiz (n=26), Tajik (n=25), Kazak (n=32),a total of 215 unrelated male individuals in Xinjiang Uygur Autonomous Region as the research object,Nuclear genome DNA was extracted by phenol-chloroform method. The first group consists of seven Y-SNP loci(O*-M175,O3*-M122,O1a-M119,K-R*-M9,C-M130,D-M174, O2a1-M95),using this multiplex amplification system and the SNaPshot detection technology to preliminary screening, choice both K-R*-M9 mutation and haploid non K-M9 samples we detected with the second group of seven Y-SNP locis (D-M145, I-M258,Q-M242,N-M231,R-M207,Rla1-M17,J-M304),and do frequency comparison with the northern Han and European populations;27 Y-STR were typed using multiplex PCR of Yfiler(?) Plus kit,and compared with Henan Han and Italy population; application Arlequin3.5, SPSS 17.0 and Network4.5.1.6 software for statistical data analysis.Results:In the detection of the 14 Y-SNP haplogroups, Uygur has the frequency distribution in haplogroup I-M258, Q-M242, N-M231,R*-M207,Rlal-M17 and J-M304; The Kirgiz frequency distribution in J-M304,R*-M207 and Rlal-M17 haplogroup; Tajik frequency distribution in R*-M207, R1al-M17 and J-M304 haplogroup; Kazak’s mainly distribution is R*-M207 and Rlal-M17 haplogroup DE*-M145 were not detected in four ethnic groups,but it exsit in northern Han and European populations; The R*-M207 in Uygur and Kirgiz frequency respectively 0.0606,0.1154; Frequencies in six populations in the Rlal-M17 respectively 0.2273, 0.3846,0.2400,0.0625,0 and 0.3947; J-M304 respectively 0.1212,0.0769,0.1600,0, 0.0040 and 0.1600; Q-M242 only detected in Uygur, northern Han and European population; I-M258 only detects one case in Uighur sample.27 Y-STR loci haplotypes in Uygur, Kazak, Kirgiz, Tajik, Henan Han and Italy populations were detected 235,120,110,125,321 and 183; DYS635 in the Tajik and Kazak on high frequency allele was 22 and 19; DYS38911*32 in Kirgiz has the high frequency distribution; DYS458*15 is mainly in Kirgiz; DYS448 in Kirgiz and Italian’s high frequency allele was 21 and 18; DYS390*26 frequency distribution only in Henan Han population; DYS392*7 and DYS518*30 are only distributed in Uygur; DYS570 in Uygur and Tajik’s high frequency allele are 19 and 16/18; DYS385 haplotype 8,17/12,32/14,24/16,21/17,17 in Uygur is unique; In the DYF387S1 locus of six nationalities were detected 34,10,9,13,50 and 12 haplotypes, with good diversity, high recognition rate.27 Y-STR locus in R*-M207, Rlal-M17, J-M304 and Q-M242 four haplogroups have a high frequency in Uighur; In DYS576, DYS38911, DYS391, DYS391, DYS460, DYS456, DYS390, DYS437 and DYS5339 loci with no significant differences between the allele distribution. The distribution of DYS627and DYS448 in Rlal-M17 haplogroup are different from R*-M207, Q-M242 and J-M304, which is 17-20 haplotypes; loci DYS392 and DYS570 in the frequency of R*-M207 allele distribution was significantly different with the others, the haplotype is 13-16/20; DYS481 locus has significantly difference in haplogroup J-M304 allele frequency distribution; DYS458, DYS518, DYS385, DYS449 and DYF387S1 obviously uneven distribution in each haplogroup, Large difference. DYS627, DYS570 and DYS533 loci in the R1al-M17 haplogroup distribution in Kirgiz and Uygur has obvious difference.R1a1-M17 haplogroup network diagram, Uygur and Kirgiz has obvious geographic specificity of clustering, the individual haplotype dispersion and is longer branch length apart, that an ancient haplogroup are R1al-M17, did not experience the expansion effect or foundation effect, experienced a long time variation and genetic structure of the complex. Kirgiz haplotypes in peripheral, and has a smaller similar stellate shape of radiation, prompt Kirgiz in R1al-M17 haplogroup individuals experienced some expansion effect or a founder effect. Uygur in j-m304 haplogroup dispersed to the intermediary network diagram of the central and has not formed a stellate shape of radiation, showed that in j-m304 haplogroup branch of diversity and have not undergone dilatation.in the median joining network of Rlal-M17 haplogroup, Uygur and Kirgiz has obvious geographic specificity of clustering, the individual haplotype dispersion and divided by long branch, that revealed Rlal-M17 is an ancient haplogroup, did not experience the expansion effect or foundation effect, experienced a long time variation and had complex genetic structure. Kirgiz haplotypes in peripheral, and has a smaller clustering, prompt Kirgiz in R1al-M17 haplogroup individuals experienced some expansion effect or a founder effect. Uygur in J-M304 haplogroup dispersed to the intermediary in median joining network diagram of the central and has not formed a clustering, showed that in J-M304 haplogroup branch of diversity and have not undergone dilatation.Conclusions:This topic research gets the Xinjiang uygur, kirgiz, tajik and kazak Y-SNP and Y-STR based data of population genetics. This task studied the paternal genetic characteristics of Xinjiang minority nationality, Y-SNP and Y-STR genotyping is derived from two parts of the crowds, Europe and east Asia, and it is consistent with previous research results. It can provide the reference to individual ethnic origin of forensic biological samples’ inference.