Progress on Copy Number Variation and Its Application in Forensic Medicine.

ABSTRACT: Recently, researches on copy number variation （CNV） have extended to every field, such as etiological exploration and precise treatment of complex diseases, as well as genetic breeding and evolution. The unique genetic characteristics of CNV have made people gradually believe that it could be used as a biological genetic marker to solve related problems. With the development of detection technology, application of CNV in forensic medicine will increase gradually. In this paper, the concept and development of CNV, as well as its application in forensic medicine are summarized, to provide new ideas for the practical application of CNV in the future.

Magnetic Weyl semimetal phase in a Kagomé crystal.

Weyl semimetals are crystalline solids that host emergent relativistic Weyl fermions and have characteristic surface Fermi-arcs in their electronic structure. Weyl semimetals with broken time reversal symmetry are difficult to identify unambiguously. In this work, using angle-resolved photoemission spectroscopy, we visualized the electronic structure of the ferromagnetic crystal Co3Sn2S2 and discovered its characteristic surface Fermi-arcs and linear bulk band dispersions across the Weyl points. These results establish Co3Sn2S2 as a magnetic Weyl semimetal that may serve as a platform for realizing phenomena such as chiral magnetic effects, unusually large anomalous Hall effect and quantum anomalous Hall effect.

Evaluating the Efficiency of REPLI-g® Single Cell Kit for Trace DNA Amplification.

ABSTRACT: Objective To evaluate the efficiency of REPLI-g® Single Cell Kit for sample DNA amplification, and explore its application value in forensic trace DNA amplification. Methods Three DNA extraction kits were selected to extract DNA from peripheral blood of 10 unrelated individuals. The DNA yield and purity of the three DNA extraction kits were compared. According to the results of comparison, one DNA sample was selected to concentrate and dilute, then used as the initial sample of whole genome amplification （WGA）. REPLI-g® Single Cell Kit was used to amplify the initial sample at the whole genome level. The amplification yield and amplification times were calculated, and the distribution of DNA fragments was detected by agarose gel electrophoresis. Goldeneye® DNA ID System 20A Kit was used to perform the STR typing of the initial sample and DNA samples amplified at the whole genome level to evaluate the performance of REPLI-g® Single Cell Kit in trace DNA amplication in terms of purity and yield as well as the success rate of STR typing. Results After comparison, one DNA sample was selected from QIAsymphony® DNA Investigator® Kit extracts to concentrate and dilute as the initial sample of WGA. After amplifying the whole genome of a series of initial samples by REPLI-g® Single Cell Kit, the lowest average of amplification yield reached 8.77×103 ng, while the average of the corresponding amplification times reached 1.40×106. DNA fragments were large and concentrated. The STR typing success rate of WGA samples became lower with the decrease of initial samples used, but when the amount of samples was lower than 0.5 ng, the STR typing success rate of samples after DNA WGA was higher than that of samples without DNA WGA. Conclusion REPLI-g® Single Cell Kit can increase the yield of template DNA. Especially for trace DNA, the STR typing success rate can be improved to a certain extent.

Research Progress on InDel Genetic Marker in Forensic Science.

Genetic markers in forensic DNA typing experienced the variable number of tandem repeats （VNTR） sequences and the short tandem repeats （STR） sequences. With the emerge of sequencing technology, the third generation of genetic markers were found out, which usually have two alleles including single nucleotide polymorphism （SNP） and insertion/deletion （InDel）, also known as biallelic genetic markers. Because of the insertions or deletions of DNA fragments, InDel genetic marker reveals DNA fragment length polymorphism and widely distributes across the whole genome. InDel genetic marker is numerous and has the characteristics of STR and SNP genetic markers, which has been applied in the fields of genetics and anthropology. This review focuses on the research progress of InDel genetic marker in forensic science, aiming to review and summarize the main research findings in recent years and provide clues for future researches.

[Assessment on Application of 24 Y-STR Loci in Forensic Science].

OBJECTIVES: To select a Y-STR marker system with strong haplotype identification ability, appropriate mutation rate and high compatibility and to assess its forensic application. METHODS: The 24 Y-STR loci were tested by self-built fluorescent multiplex system, and the forensic assessment was conducted by 139 pairs of father-son samples collected in Jinan, Shandong province. RESULTS: Totally 176 alleles were identified among the 24 Y-STR loci in the sample of 139 unrelated individuals labeled with father, and the gene diversity （GD） distributed between 0.083 7 （DYS645）-0.966 9 （DYS385a/b）. According to the 24 Y-STR loci, 139 different haplotypes were detected from 139 unrelated male individuals labeled with father in Han population of Shandong province and with no shared haplotype observed. The overall haplotype diversity （HD） was 1 and the discrimination capacity （DC） was 1. A total of 5 one-step mutations events were observed among the 24 Y-STR loci in 139 pairs of father-son. The average mutation rate was 0.001 5 [95% CI （0.000 5, 0.003 5）]. CONCLUSIONS: The system of 24 Y-STR loci shows a strong individual recognition ability and low mutation rate in the population in Jinan, Shandong province, and it has good application value in forensic science.

[Forensic Application of SiFaSTR™ 23plex DNA ID System in Han Population of Eastern China].

OBJECTIVES: To investigate the genetic polymorphism of 21 autosomal STR loci and DYS391 locus of SiFaSTR™ 23plex DNA ID system in Han population of eastern China and to evaluate its application value in forensic science. METHODS: Typing test of 2 000 unrelated individuals was performed using SiFaSTR™ 23plex DNA ID system. The population genetic parameters of STR loci were statistically analysed. A total of 3 198 parentage confirmed cases were detected with that system and the mutation conditions were observed in 21 autosomal STR loci. RESULTS: All the 21 autosomal STR loci showed no significant departure from Hardy-Weinberg equilibrium （P>0.05）. The Ho ranged from 0.617 5 to 0.927 0. The DP ranged from 0.796 4 to 0.986 9, as well as the PIC distributed from 0.561 1 to 0.912 3. The CDP was 0.999 999 999 999 999. The CPEduo was 0.999 997 431 701 961, while CPEtrio was 0.999 999 999 654 865. Five alleles were detected in DYS391 locus, with the allele frequency from 0.004 0 to 0.729 0, and GD was 0.418 9. Except D13S317 and D10S1248, seventy-six mutation events were observed at the rest nineteen autosomal STR loci. Among them, seventy-five （98.68%） were one step mutation, and only one （1.32%） was three steps mutation. The mutation rate ranged from 0.246 5×10⁻³ to 2.711 4×10⁻³, and the averaged mutation rate was 0.892 1×10⁻³ （95% CI： 0.70×10⁻³-1.10×10⁻³ï¼‰. In 33 trio mutation cases, the proportion of the paternal mutation and the maternal mutation was 2.09:1. CONCLUSIONS: The involved STRs are highly polymorphic in Eastern Han population with acceptable mutation rates by the SiFaSTR™ 23plex DNA ID system, which is suitable for paternity testing and individual identification.

[Establishment of 43-plex SNP Typing System and Its Forensic Application].

OBJECTIVES: To evaluate the application of 43-plex SNP typing system in forensic science. METHODS: The typing of 43 SNP loci in 123 unrelated Han individuals from East China was detected by MALDI-TOF-MS. The application value of 43-plex SNP typing system was assessed according to the forensic parameters of population genetics. RESULTS: All the 43 SNP loci of 123 individuals showed no significant departure from Hardy-Weinberg equilibrium （P>0.05）. Excepted rs1355366, rs2270529, rs10776839 and rs938283, there were 39 SNP loci had minor allele frequencies （MAF）, which were greater than 0.25. Among the 25 loci MAFs, 24 ranged from 0.4 to 0.5, while 3 were close to 0.4. The DP, CDP, PIC, Ho, PEtrio and PEduo of the 43 SNP loci were 0.290 1-0.654 4, 1-9.8×10⁻¹¹, 0.170 8-0.500 0, 0.155 7-0.593 5, 0.085 4-0.250 0 and 0.014 6-0.125 0, respectively. The CPEtrio and CPEduo were 0.999 986 and 0.992 436 1, respectively. CONCLUSIONS: The 43-plex SNP typing system in present study shows a high polymorphism, which can be an effective supplement and verification for traditional STR genetic markers. It also can be used with other commercial kits for the forensic paternity testing and individual identification.

Research Progress on Discrimination of Monozygotic Twins.

Individual identification plays an import role in the practice of forensic medicine, and often provides crucial evidence for the analysis and detection of criminal cases. However, for individual identification in complex situations, such as monozygotic （MZ） twins assumed to be genetically identical, it is impossible to distinguish one from the other by using traditional forensic DNA typing system. Therefore, how to discriminate the MZ twins has become and will continue to be one of the difficult problems in forensic field. This paper summarized the genetic and epigenetic changes recently identified in MZ pairs, which might provide a new insight to forensic discrimination of MZ twins.

Observation of three-component fermions in the topological semimetal molybdenum phosphide.

In quantum field theory, Lorentz invariance leads to three types of fermion-Dirac, Weyl and Majorana. Although the existence of Weyl and Majorana fermions as elementary particles in high-energy physics is debated, all three types of fermion have been proposed to exist as low-energy, long-wavelength quasiparticle excitations in condensed-matter systems. The existence of Dirac and Weyl fermions in condensed-matter systems has been confirmed experimentally, and that of Majorana fermions is supported by various experiments. However, in condensed-matter systems, fermions in crystals are constrained by the symmetries of the 230 crystal space groups rather than by Lorentz invariance, giving rise to the possibility of finding other types of fermionic excitation that have no counterparts in high-energy physics. Here we use angle-resolved photoemission spectroscopy to demonstrate the existence of a triply degenerate point in the electronic structure of crystalline molybdenum phosphide. Quasiparticle excitations near a triply degenerate point are three-component fermions, beyond the conventional Dirac-Weyl-Majorana classification, which attributes Dirac and Weyl fermions to four- and two-fold degenerate points, respectively. We also observe pairs of Weyl points in the bulk electronic structure of the crystal that coexist with the three-component fermions. This material thus represents a platform for studying the interplay between different types of fermions. Our experimental discovery opens up a way of exploring the new physics of unconventional fermions in condensed-matter systems.

Topologically Entangled Rashba-Split Shockley States on the Surface of Grey Arsenic.

We discover a pair of spin-polarized surface bands on the (111) face of grey arsenic by using angle-resolved photoemission spectroscopy (ARPES). In the occupied side, the pair resembles typical nearly-free-electron Shockley states observed on noble-metal surfaces. However, pump-probe ARPES reveals that the spin-polarized pair traverses the bulk band gap and that the crossing of the pair at Γ[over ¯] is topologically unavoidable. First-principles calculations well reproduce the bands and their nontrivial topology; the calculations also support that the surface states are of Shockley type because they arise from a band inversion caused by crystal field. The results provide compelling evidence that topological Shockley states are realized on As(111).

Compensated Semimetal LaSb with Unsaturated Magnetoresistance.

By combining angle-resolved photoemission spectroscopy and quantum oscillation measurements, we performed a comprehensive investigation on the electronic structure of LaSb, which exhibits near-quadratic extremely large magnetoresistance (XMR) without any sign of saturation at magnetic fields as high as 40 T. We clearly resolve one spherical and one intersecting-ellipsoidal hole Fermi surfaces (FSs) at the Brillouin zone (BZ) center Γ and one ellipsoidal electron FS at the BZ boundary X. The hole and electron carriers calculated from the enclosed FS volumes are perfectly compensated, and the carrier compensation is unaffected by temperature. We further reveal that LaSb is topologically trivial but shares many similarities with the Weyl semimetal TaAs family in the bulk electronic structure. Based on these results, we have examined the mechanisms that have been proposed so far to explain the near-quadratic XMR in semimetals.

[Establishment of human glioma cell line--nude mice solid tumor model NHG-1 and its characteristics].

Establishment and its characteristics of a nude mice solid tumor model NHG-1 from human glioma cell line are reported. 5-8 week old NC nude mice of both sexes and SHG-44 cell line used in this experiment were from our laboratory. The initial successful transplantation rate was 7/11 (64%) and that of 30 passages in the subsequent 4 years was 100%. After subcutaneous inoculation, growth curve showed a latent period in week 1-2, slow growing period in week 3-4, rapid growing period in week 5-6 and a final plateau period in week 7. The doubling time was 7 days and cell cycle time was 2.5 days. The cells in G1, S and G2M phases comprised 56%, 27% and 17%, respectively. The survival time of the host was 54 +/- 15 days. The tumor tissues showed a tendency towards invading the surrounding soft tissues. By morphological observation with light and electron microscopes, LDH isozyme assay, PAP immuno-histochemistry labelling GFAP and chromosome analysis, it is confirmed that the transplantable tumor possesses the characteristics of human malignant glioma. The estrogen receptor in the transplantable tumors demonstrated by cytochemical assay indicates that the glioma carcinogenesis is related to endocrine factor of the host. The therapeutic effects of anticancer drugs, such as ACNU, BCNU and 10-hydroxy-2-decenoic acid from the royal jelly on NHG-1 model are evaluated.