Research on the association between the DYS570 microvariant and Y-SNP haplogroup in Kunming / 中国法医学杂志

Objective To investigate the association between microvariants at locus DYS570 and Y-SNPs haplogroup.Methods 89 Y-SNPs and 34 Y-STRs in AIYSNP42,AIYSNP47 and YfilerTM Platinum kits were used to detect the genotype of 116 microvariants at locus DYS570 in Kunming,and the Set-B kit was used to detect the core repeat sequences of the DYS570 locus.The data were statistically analyzed by direct counting method.Then,a network map was drawn by Network 10.2,in order to visualize the genetic information of the sample.Results The results demonstrated that 111 DYS570/18.3-21.3 samples had a core repeat sequence of TTT[TITC]18-21,belonging to subgroup O2a2b1a1a1a4-F14494.A DYS570/20.3 sample had a core repeat sequence of[TTTC]15TTC[TTTC]5,belonging to O2a1b1a1a1a1e-F1365 subgroup.A DYS570/17.1 sample had a core repeat sequence of[TTTC]17 T,belonging to the O2a1b1a1a1a-F11 subgroup.Three DYS570(19.2)samples had[TTTC]3 TT[TTTC]16,belonging to the D1a1a-M15 haplogroup.Conclusion The results indicated that the microvariant with the same core repeat structure at locus DYS570 was associated with haplogroups,and the ancestry origin of samples can be inferenced from microvariant characteristics during the practice of forensic medicine.

The association between the DYS527a/b and DYF387S1a/b multi-allele pattern and Y-SNP haplogroups / 中国法医学杂志

Objective To investigate the association of the DYS527a/b and DYF387S1a/b multi-allele pattern with Y-SNP haplogroups.Methods Samples from 295 unrelated males who carrying the DYS527a/b multi-allele pattern were amplified by the YFilerPlus? kit.The genotypes of their frequency distributions,including three multi-copy loci(DYS527a/b,DYF387S1a/b,DYS385a/b)and other single-copy loci were obtained.The DYS527a/b multi-allele pattern and their haplotypes were examined for the associations with Y-chromosome haplogroups using the AIYSNP42 kit,which contains 42 Y-SNP loci.Based on the above results,the association between the DYS527a/b multi-allele patter and its constituent Y-STR haplotypes and related haplogroups was discussed.Results Among the 295 samples,the DYS527a/b tri-allele pattern and tetra-allele pattern accounted for 97.29%and 2.71%respectively,while the DYF387S1a/b tri-allele pattern and tetra-allele encompassed 54.24%and 4.75%.Null allele was detected in DYS448 in 13.22%of the samples.Here,7 Y-SNPs were deticted such as O-M175 and C-M131 which encompassed 45.76%and 45.08%.The haplogroups of R1-M173,N-M231,D1-M174,J-M304 and F-M89 were less than 13 cases,with frequencies ranging from 4.41%～0.34%.There were Y-STR genotypes differences among haplogroups,as haplogroup O-M175 was represented by 4 genotypes of Y-STR profiles characterized by DYS385a/b(12/12,as well as 12/17,12/18,12/19),DYS392(13),DYS593(16)and DYS393(12),and haplogroup C-M130 was characterized by DYS527a/b(19/20/21),DYS385a/b(11),DYS593(17),DYS390(23),Y_GATA_H4(11),and DYS444(13)and so on.Conclusion The DYS527a/b multi-allele pattern is frequently observed in the Kunming population with haplogroup C-M130.In the samples from haplogroups O,C,R1 and N,the DYS527a/b and DYF387S1a/b haplotypes frequently exhibit the multi-allele pattern.Given the frequencies of different haplogroups and the association between Y-SNP haplogroups and Y-STR loci,it could be helpful to look for more details in the paternal lineage search.

Application of next-generation sequencing technology in forensic science / 中国法医学杂志

With the rapid development of Next-generation Sequencing(NGS)technologies, and its high throughput and low cost is applied widely in the field of life science, the increase in the depth of sequencing together decrease in the consumption of time and cost, makes a wide application of NGS in the research of microbiological research, ancient DNA study, clinical diagnosis, forensic science research, etc. The article discusses the second generation sequencing technology platform and its genetic markers in the forensic application. Included STR typing, SNP typing, HLA genotype prediction and the application in the degradation of the material.

A new methodology of DNA polymorphism detection from standard long gun / 中国法医学杂志

Objective A new methodology was established to efficiently obtain the genotype of DNA remained on standard long gun. Methods Direct PCR and silicon membrane method were combined to detect DNA polymorphism of a total of 240 samples at 5 different positions from 48 standard long guns. Results Combining direct PCR and silicon membrane method, we obtained full DNA profiles in 42 out of 48 standard long guns, with a detection rate up to 87.50%. Conclusion The results demonstrate that the combination of direct PCR and silicon membrane method provide a quick and accurate way to detect DNA polymorphism on the standard long gun.

Genotyping of ABO Blood Group in Partial Population of Yunnan Province by SNaPshot Technology / 法医学杂志

Objective T o detect the genotype of A B O blood group by SN aPshot technology. Methods D N A w ere extracted from the peripheral blood sam ples w ith know n blood groups (obtained by serology) of 107 unrelated individuals in Y unnan. Six SN P loci of the 261th, 297th, 681th, 703th, 802th, and 803th nucleotide positions w ere detected by SN aPshot M ultiplex kit, and relevant genetics param eters w ere cal-culated. Results In 107 blood sam ples, the allele frequencies of types A , B , O A, and O G w ere 0.3551, 0.1682, 0.2300 and 0.2476, respectively, w hile that of types A G and cis A B w ere not detected. T he geno-typing results of A B O blood group w ere consistent w ith that of serologic testing. Conclusion SN aPshot technology can be adapted for genotyping of A B O blood group.

Genetic polymorphism study of the Y chromosome in pedigree with the surname Kong and their forensic implications / 中国法医学杂志

Objective Acquiring genetic information of Y-SNPs and Y-STRs genetic makers from samples with the surname of Kong, which is useful for exploring the correlation between surname and Y chromosome in forensic applications studies.Methods Two multiplex genotyping assays and SNaPshot assay were used to analyze 255 unrelated male blood samples who share the same surname Kong and 330 unrelated male blood samples obtained randomly. 17 Y-STRs were typed for the surname Kong population samples. The software Arlequin 3.5.1.2 and the program Network 4.6.1.1 were used for data statistical analysis.Results 13 haplogroups were observed. The highest haplogroup frequency in the two populations were O3a2c1a-M117 (21.57%, 14.85%). 196 haplotypes in Kong population deifned by 17 Y-STRs locus were obtained and the haplotype diversity was 0.9939. 14-12-25-28-19-15-12-19-12-11-12-22-12-11-14-10-19 is the typical haplotype. Median Joining algorithm and Mismatch Distribution were adopted to analyze the Y-STR haplotye under haplogroup O3-M122, and the result shows that there are two “central star” distribution. Conclusion Combined with Y-SNP and Y-STR analysis showed that the Kong population had experienced complicated exchanges and expansion or continued growth, which has more than one surname origin. Hence, its population genetic structure and historical differences have potential applications in forensic science.

Application of the identification diatom test in drowning / 中国法医学杂志

In forensic case, the location diagnosis determination of drowning has been one of the most important and dififcult diagnosis. Then diatom test is considered to be a relatively reliable method for the diagnosis of drowning. According to community characteristics inferred from diatoms into the different water region has been credibility. The study of the diatoms in different waters identiifcation is reference to the determination of the body drowned into the water area. In this paper, the research progress of diatom relevant biological characteristics and test methods on review for forensic workers is related to the further research and reference case in practice.

Association of eight single nucleotide polymorphisms of chromosomes 20 and X with androgenetic alopecia among ethnic Han Chinese from Yunnan / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association of 8 single nucleotide polymorphisms (SNPs) from chromosomes X and 20 with androgenetic alopecia among ethnic Han population from Yunnan province.</p><p><b>METHODS</b>An eight-SNP co-amplification protocol was developed for the genotyping with a SNaPshot platform. A case-control study was carried out for the 8 SNPs from chromosomes X and 20 in 115 androgenetic alopecia cases and 125 healthy controls. Statistical analysis was conducted with SPSS17.0, Haploview4.2, SHEsis and MDR software.</p><p><b>RESULTS</b>No association was found between the two groups with regard to the 4 SNPs located on the X chromosome. The genotypic frequencies of rs2180439, rs913063 and rs1160312 were significantly different between the two groups (P < 0.05). The frequency of T allele of rs2180439 was significantly higher in the case group (P < 0.05). The frequencies of A alleles of rs913063 and rs1160312 were significantly higher in the case group (P < 0.05). The haplotypes of C-T-C-G, T-C-C-G and T-T-A-A based on rs6137444-rs2180439-rs913063-rs1160312 showed significant difference between the two groups (P <0.05). rs6137444, rs21804393 and rs1160312 have a strong association with androgenetic alopecia.</p><p><b>CONCLUSION</b>The 4 SNPs located on chromosome X were all monomorphic among ethnic Hans from Yunnan. The rs6152, rs16990427, rs1352015, rs1385699 SNPs located on chromosome 20 are associated with androgenetic alopecia in the same population. Individuals with T allele of rs2180439 and A allele of rs913063 and rs1160312 are more likely to develop androgenetic alopecia.</p>

Analysis of null alleles for 17 Y chromosome-short tandem repeat loci in infertile males / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the characteristics of null allele for 17 Y-chromosomal short tandem repeats (Y-STR) loci in a group of infertile males.</p><p><b>METHODS</b>Two hundred thirty six infertile males featuring non-obstructive azoospermia and severe oligozoospermia were analyzed with an AmpFISTR ((R)) Yfiler (TM) kit. Deletions of azoospermia factor (AZF) fragments were confirmed with Y chromosome sequence-tagged sites (STSs) analysis using modified multiplex PCR.</p><p><b>RESULTS</b>The overall prevalence of AZF microdeletions was 16.95% (40/236). In the non-obstructive azoospermia group, 13 cases had AZFc deletion, 6 cases had AZFb+c deletion, 2 cases had AZFa deletion, 1 case had AZFb deletion. In the severe oligozoospermia group, 17 cases had AZFc deletion and 1 had AZFb deletion. No AZFa+b+c deletion was detected. Forty cases showed null alleles by scanning of the 17 STR loci. Deletions of DYS438, DYS439, DYS437, DYS389I and DYS389II were found in the 2 cases with AZFa deletion. In patients with AZFb deletion, DYS392 and DYS385a/b were found deleted. Deletions of DYS448 were detected in all of the 30 cases with AZFc deletion. Deletions of DYS392, DYS385a/b, and DYS448 were found in 6 cases with AZFb+c deletion.</p><p><b>CONCLUSION</b>Deletions of the Y chromosome AZF regions are associated with azoospermia and severe oligozoospermia. Null allele due to complete absence of AZFa, AZFb and AZFc regions may lead to misinterpretation in the sexual assault cases. Revealing the locus heterogeneity in male infertility population can enrich the Y-STR database and facilitate interpretation STR data in forensic DNA testing.</p>

A preliminary study on species differences among Papaver somniferum L,Papaver rhoeas L and Cannabis sativa L by AFLP technique / 中国法医学杂志

Objective To disclose the inter-species differences among Papaver somniferum L, Papaver rhoeas L and Cannabis sativa L using AFLP analysis. MethodsThe root, stem, foliage, flower, seed of Papaver somniferum L, foliage of Papaver rhoeas L and Cannabis sativa L were collected respectively. DNA was isolated with AxyPrep Kit, and double-digested by EcoR I and Mse I, then oligonucleotide adapters were ligated. After Pre-amplification, selective amplification was performed using 6 pairs of fluorescent primer. The DNA fragments were analyzed using a CEQ 8000 DNA Fragment Analyzer. Results27 to 46, 5 to 20 and 4 to 31 pieces of amplified products were detected from Papaver somniferum L, Cannabis sativa L and Papaver rhoeas L respectively, and significant difference was observed among these three groups of products. The identical species-specific peaks were identified from root, stem, leaf, flower and seed DNA from the same Papaver somniferum L. ConclusionThe diacritical results from Papaver somniferum L, Papaver rhoeas L and Cannabis sativa L, as well as the identical results of different parts from the same plant demonstrated that AFLP analysis could be used possibly to determine the species origin of unknown plants samples.