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PubMed2006

[The evaluation of 12 STR loci genetic polymorphism in Han population].

OBJECTIVE: To investigate the genetic polymorphism of 12 STR loci in 240 Han population and evaluate application of the 12 STR loci systems in forensic cases. METHODS: 12 STR loci were amplified with Muti-loci STR PCR system, which were genotyped with electrophoresis separation on dPAGE. RESULTS: 12 STR loci system had high power of discrimination (DP) and it was suited for analysis of dated bloodstain especially. CONCLUSION: The 12 STR loci systems is simple economy and practicality, which is useful in forensic identification and disputed paternity.

Alleles↗
PubMed1991

[Application of genetic polymorphisms in blood to forensic anthropology].

1. The Ainu subjects and, as controls, Wajin subjects obtained in the District of Hokkaido, were studied for blood groups, serum groups and red cell enzyme groups. The high n gene and r" gene frequencies seem to be characteristic in the distribution of the Ainu. In considering the high frequencies of Fya and Agx genes, low incidence K gene and Rh negative type, and existence of Di (a+) type, it is conceivable that the distribution of these blood group in the Ainu are closer to those in Mongoloid than to those in Caucasoid. The results of genetic distance analysis were in full agreement with the genetic affinity of the Ainu to the Mongoloid racial stock. According to the phylogenetic tree constructed on the basis of 16 polymorphic loci, it may be concluded that the Ainu are derived from the common stock of Mongoloids, which in turn has common ancestry with American Indians. The Negritos which are thought to be oldest living aborigines of southeast Asia and the western pacific. We investigated for grouping some genetic polymorphic traits from Negrito blood samples collected in the Philippines. A total of more than 500 samples were examined for 20 genetic traits. The most outstanding features of Negritos were as follows: Di (a+) type was found and all individuals were Lu (a-b +) and K-k+ types. Mia, Wra and Jsa genes were absent and all samples were U+ type. The existence of Dia gene and absence of both Lua and K genes are thought to suggest that the distribution of Negritos is quite close to that of Mongoloid populations. Fy (a-b-) and Js (a+) types are not found in our study. These results do not suggest similarity between Negritos and African. 2. The tandem repeat of a 28-base-pair (bp) sequence downstream of the human c-Ha-ras-1 oncogene was studied as a probe for DNA fingerprinting. Multiple hypervariable patterns were observed by Southern hybridization at low stringency. The patterns were specific to individuals, indicating the availability of the 28-bp repeat as a probe for DNA fingerprinting. Moreover, we cloned the tandem repeat of a 33-bp sequence, which cross-hybridized with the 28-bp repeat. This 33-bp repeat detected another set of hypervariable restriction fragments by Southern hybridization at the same stringency. These results suggest that "probe walking" can be employed to develop novel probes that provide different DNA fingerprints.(ABSTRACT TRUNCATED AT 400 WORDS)

Blood Group Antigens↗
PubMed1997

Genetic polymorphisms detectable in human urine: their application to forensic individualization.

This review describes several types of genetic polymorphism, which have recently been identified in human urine in our laboratory, and have also been found in other human body fluids such as blood, saliva and semen. These include uropepsinogen, ribonuclease, deoxyribonuclease I (DNase I), deoxyribonuclease II (DNase II), 43-kDa glycoprotein, alpha-L-fucosidase, glutamate pyruvate transaminase, alpha-2-HS-glycoprotein, transferrin and vitamin D-binding protein. Several substances can be detected more easily in urine than in plasma. The concentrations of uropepsinogen, DNase I and DNase II in blood plasma are too low for analysis, whereas those in urine are high enough for easy typing. In practice, DNase I-polymorphism is one of the most useful genetic markers for practical purposes, because of its higher content in various body fluids including urine, a well-balanced gene frequency, and its easy and accurate detectability. Furthermore, several genetic markers previously identified in blood and/or other forensic samples can be phenotyped reproducibly and easily from the corresponding urine samples. Thus, urine, in addition to the convenience and non-invasive nature of its collection, is by no means inferior to blood as a sample source for typing in the field of forensic science. Biochemical and serological typing of genetic polymorphisms present in human urine could offer useful information to practising forensic biologists for forensic individualization of urine samples.

Deoxyribonuclease I↗
PubMed2005

[Practice value of whole genome amplification technology to be used in forensic science and analysis of its result].

Genetic analysis from forensic microsamples is a urgent, difficult task in forensic science, because it is frequently limited by the amount of specimen available in forensic practice, much effort has been carried out to resolve this difficulty. Whole genome amplification (WGA) technology, which was developing quickly in these years, has been thought to be a powerful, reliable and efficient strategy in analysis of minute amount DNA on many fields. In this review, we discuss its application in forensic science.

DNA↗
PubMed2002

[Genetic structure of STR in Naci ethnic group in China].

STR is a universal genetic marker that has changeable polymorphism and stable heredity in human genome. It is a specific DNA segment composed of 2-7 base pairs as its core sequence, and is formed through the repeated connection of the same one. Since it has the characteristics such as numerous allelic genes, highly heterozygosity and easy recognition and short PCR segment, it is employed as an ideal DNA marker in such practical fields as human genetics and forensic medicine. In this study, we investigated the polymorphism of STR of Naci minority with STR genescan marked by fluorescence. Seventy-two alleles of 9 STR in Naci were detected with their frequency 0.0052-0.5208 and 165 genotypes were found out with frequency 0.0104-0.3021. Hi-Square test indicated the distribution of genotypes agreed with Hardy-Weinberg equilibrium (P > 0.05). Statistical analysis showed the followings: the heterozygosity (H) > 0.6 in each locus, the average polymorphism information content (PIC) > 0.7, Mean discrimination power (DP) > 0.8, probability of paternity exclusion (EPP) > 0.5, indicating that the STR markers used in the study were of great value in the researches of minority genetics. This not only founds the base for genetic structures of STR of Chinese but also provides valuable information for anthropology, forensic medicine and ethnology.

China↗
PubMed2006

Allele frequencies for 15 STR loci in Tibetan populations from Nepal.

Samples from 105 unrelated healthy Sherpa in Namche Bazaar and 111 unrelated non-Sherpa in Kathmandu valley from Nepal were used to obtain allele frequency data for 15 short tandem repeat (STR) loci (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPOX and vWA) included in the AmpFLSTR Identifiler kit. No deviations from Hardy-Weinberg equilibrium were observed, but only after applying a Bonferroni correction in the case of D5S818 in the Sherpa population and D7S820 in the Kathmandu population. Genetic parameters of forensic interest were calculated and genetic differentiation between the two populations tested.

DNA Fingerprinting↗
PubMed2002

Novel alleles of the D16S752 polymorphic genetic marker linked to E-cadherin gene--a potential population marker.

Seven DNA variants that polymorphic genetic marker D16S752 reveals in Croatian population are reported in this paper. The marker is a GATA tetranucleotide repeat linked to human E-cadherin gene (CDH1). Prior studies involving this marker revealed only four DNA allele variants. The reported DNA variants contribute to the collection of hypervariable DNA polymorphisms data useful in the field of anthropological and population genetic and forensic medicine.

Cadherins↗
PubMed2026

Genomic Tracking of Market-Derived Bull Shark Fins Back to Source Population of Origin.

International trade of shark fins remains difficult to monitor because products are rarely labelled to species and are often highly processed, resulting in severely degraded DNA. For several shark species listed under Appendix II of the Convention on International Trade in Endangered Species of Wild Fauna and Flora (CITES), this limits external verification of source populations supplying global trade hubs. Here, we assess whether nuclear genomic approaches can be applied to market-derived bull shark (Carcharhinus leucas) fins to determine their population of origin. We analysed dried fin trimmings collected from retail vendors in Hong Kong SAR, one of the world's largest dried shark fin trade hubs, using a targeted DArTcap single nucleotide polymorphism (SNP) panel, originally developed for population genomic studies of this species. Despite substantial DNA degradation, genomic libraries were successfully obtained for most samples, yielding sufficient SNP data to perform robust provenance and sex assignment. Using a Bayesian mixed-stock analysis, most fin samples were assigned to the Indo-West Pacific (71.4%), with smaller contributions from the western Atlantic (22.6%) and eastern Pacific (3.0%). Genetic sex assignment revealed twice as many males as females, although results indicated a conservative bias towards male assignment due to the limited number of X-linked markers available in degraded samples. Our results demonstrate that genome-wide targeted approaches can be effectively applied to highly processed shark fin products to infer population sources and sex composition. This study provides proof-of-concept for integrating genomics into shark trade monitoring, highlighting its potential to improve traceability, support CITES implementation and inform conservation and fisheries management, particularly for species with well-resolved population structure.

Animals↗
PubMed2003

Bimodal allele frequency distribution at Y-STR loci DYS392 and DYS438: no evidence for a deviation from the stepwise mutation model.

A deviation from the stepwise mutation model (SMM) has been suggested for the trinucleotide Y-STR locus DYS392, based upon its bimodal allele frequency distribution in various populations. The same type of distribution is also observed for the pentanucleotide Y-STR DYS438. In order to verify whether a departure from an SMM is likely for these two loci, we studied a large number of Portuguese male DNA samples typed for the two loci and in addition, for the Y-STR loci DYS19, DYS389I/II, DYS390, DYS391 and DYS393. The compatibility of the observed allele frequency spectrum with an SMM was assessed by an apportionment of the molecular variance among, and consideration of the molecular distances between, haplotype groups defined according to their allelic state at each of the two markers of interest. For haplotypes carrying either modal alleles 11 or 13 of DYS392, 18.6% of the molecular variance of the remaining Y-STR background could be attributed to variation between the two groups. When all pairwise Phi(st) values between haplotype groups were compared, group 12 was found to be closer to 11 than to 13, and group 14 was much closer to 13 than to 12 and 11. It may therefore be concluded that DYS392 allele 13 represents an evolutionary lineage with little or no relationship to 11 and 12. Furthermore, allele 14 is a one-step neighbour of 13 and is therefore likely to represent an offshoot from group 13. For haplotypes carrying either modal allele 10 or modal allele 12 of DYS438, 27.7% of the molecular variance of the Y-STR background was found to be due to variation between the two groups. Comparison of the other pairwise Phi(st) values indicated that group 10 was closer to 9 and 11 than to 12, and that group 12 was closer to 11 and 13 than to 10. The lineages defined by the two modal alleles of DYS438 therefore also seem to be phylogenetically distant. When the two loci were analysed in combination, using the standardised linkage disequilibrium measure (D'), a strong association was noted between alleles DYS392*11 and DYS438*10 (D'=0.70) and between DYS392*13 and DYS438*12 (D'=0.72). Taken together, these results show that the bimodal allele frequency distributions of DYS392 and DYS438 are explicable in terms of (probably the same) historical and demographic causes, rather than a mutational mechanism other than SMM. The loci do therefore not appear to warrant any special attention when applied in population genetic or forensic studies.

Chromosomes, Human, Y↗
PubMed2004

Genetic data on 13 STR loci in the Andalusian (South Spain) population.

The aim of this paper was to obtain allelic frequencies for the 13 CODIS core STR loci (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D16S539, TH01, TPOX, CSF1PO, and D7S820) from autochthonous individuals from Andalusia, Spain. In addition, a number of forensically useful genetic parameters are reported.

DNA Fingerprinting↗
PubMed2005

Genetic polymorphisms at 13 STR loci in autochthonous Basques from the province of Alava (Spain).

In this study, allelic frequencies of the CODIS core short tandem repeat (STR) loci were estimated in a population sample consisting in 101 unrelated healthy autochthonous individuals from the Basque province of Alava (Northern Spain). Frequency distributions for all 13 STR loci were obtained using the AmpFlSTR Profiler Plus and AmpFlSTR COfiler amplification kits. The allelic frequencies generated were employed to calculate genetic and forensic useful parameters.

DNA↗
PubMed2005

Triallelic patterns in STR loci used for paternity analysis: evidence for a duplication in chromosome 2 containing the TPOX STR locus.

We report triallelic patterns in several short tandem repeat (STR) loci revealed by routine paternity testing using the commercial AMPFlSTR Profiler and AMPFlSTR SGMplus kits. One case where the TPOX-locus (2p25.3) produced three peaks from the blood sample of a child was analysed further. Quantitative polymerase chain reaction (QPCR) and STR typing of the DNAs of the family trio revealed a large (>1.59 Mb) duplication flanking the TPOX-locus in chromosome 2 in both the mother and child. The implications of such genetic anomalies for paternity testing are discussed.

Child↗
PubMed2003

[Y-chromosome-specific microsatellite variation in Li ethnic groups of Hainan Island, China].

OBJECTIVE: The study was conducted to reveal the distribution of genetic polymorphism of four Y chromosome specific short tandem repeat (Y-specific STR) loci in Li ethnic groups in Hainan Island, China. METHODS: Four tetranucleotide STR loci were simultaneously amplified with fluorescently labeled primers, and genotypes were determined with an automated DNA sequencer. RESULTS: Among 230 unrelated males, the alleles at the four Y-specific STR loci were composed of some complex repeat structure. 4,5,4,5 alleles were observed in loci DYS3891, DYS390, DYS391, DYS393 respectively. A set of human allele ladders for the typing of the four Y-specific STRs was obtained in Li ethnic population. Gene diversity index (D) and haplotype diversity data were estimated for the four Y-STRs. CONCLUSION: The preliminary study indicates a reference population for detecting male migration events and should be useful in population genetics and forensic applications.

China↗
PubMed2001

[Genetic studies of 13 loci in Guangdong Han population by two multiplex PCR systems and its forensic application].

OBJECTIVE: The genetic studies of 13 short tandem repeats(STRs) loci in two multiplex amplification systems were carried out on Chinese Han population in Guangdong. METHODS: DNA samples from 328 unrelated individuals were screened. The 13 loci were D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX and CSF1PO. The PCR products were analyzed and genotyped by ABI 377-96 Sequencer. RESULTS: The combined power of discrimination (DP) was 0.999999999999993 and the combined paternity of exclusion(PE) was 99.999%. These 13 loci met the Hardy-Weinberg expectations. CONCLUSION: The two multiplex amplification systems were very useful in forensic case investigation.

Asian People↗
PubMed2004

[The characteristics of polymorphism and gene structure of DYF155S1 locus in Y-specific minisatellite from Chinese Uygur population].

The study is to reveal the diversity and gene structure of 5' and 3' end of DYF155S1 locus in Y-chromosome minisatellite among Chinese Uygur population. Fluorescent MVR-PCR(minisatellite variant repeat by PCR), Amp-FLP(Amplified fragment length polymorphism) and DNA sequencing methods were used respectively to detect 106 unrelated males among Chinese Uygur population. The polymorphisms of DYF155S1 locus could be revealed in three aspects: (1) polymorphic length: the sizes of amplified fragments ranged from 1405 to 2505 bp. There are 37 types found among the 106 unrelated males. (2) polymorphism at 5' end of DYF155S1 locus, 68 types found among the 106 unrelated males. (3) polymorphism at 3' end of DYF155S1 locus, 23 types found among the 106 unrelated males. In combination of these three aspects of polymorphism, none of the 106 unrelated males tested had the same allele, and the gene diversity (h) was over 0.9999. Seven and two types of modular structure were founded in the 5' and 3' end of DYF155S1 locus, respectively, by DNA sequencing. The alleles at DYF155S2 locus showed yes/no dimorphism and the rate of deletion was 4.7%. The polymorphisms of DYF155S1 locus were fully revealed by using combination of MVR-PCR, Amp-FLP and DNA sequencing methods, and we suggested the nomenclature for alleles of MVR loci. These methods are useful tools and provide basic data for the study of human genetics and forensic medicine.

Alleles↗
PubMed1990

New detection method for ribonuclease 2 (RNase 2) using immunoblotting with specific antibody.

A ribonuclease (RNase) was isolated from the urine of a 35-year-old male and purified to electrophoretic homogeneity. The enzyme was tentatively designated RNase 2. A rabbit antibody produced by injection of the purified RNase 2 was able to distinguish RNase 2 from another type of RNase coexisting in body fluids. With this antibody it was possible to detect RNase 2 isozymes in human serum and urine without difficulty using isoelectric focusing or sodium dodecyl sulfate-polyacrylamide gel electrophoresis, followed by immunoblotting. Both RNase 2 in serum and urine seemed to exist in multiple forms with regard to their molecular masses and pI values. This technique may prove to be useful in genetic and forensic studies of RNase polymorphism.

Adult↗