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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.
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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.
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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.
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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.
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<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>
Subject(s)
Adult , Humans , Male , Middle Aged , Alopecia , Genetics , Case-Control Studies , China , Ethnology , Chromosomes, Human, Pair 20 , Chromosomes, Human, X , Genotype , Polymorphism, Single NucleotideABSTRACT
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.
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<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>
Subject(s)
Humans , Male , Alleles , Chromosome Deletion , Chromosomes, Human, Y , Infertility, Male , Genetics , Microsatellite RepeatsABSTRACT
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.