Complex Kinship Research Articles

Forensic characteristics and phylogenetic analyses of the Chinese Yi population via 19 X-chromosomal STR loci.

The demographic characteristics and genetic polymorphism data of 56 Chinese nationalities or 31 administrative divisions in Chinese mainland have repeatedly been the genetic research hotspots. While most genetic studies focused on some particular Chinese populations based on autosomal or Y-chromosomal genetic markers, the forensic characteristics and phylogenetic analyses of the seventh largest Chinese population (Yi ethnicity) on the X-chromosomal genetic markers are scarce. Here, allele frequencies and forensic statistical parameters for 19 X-chromosomal short tandem repeat loci (DXS7424-DXS101, DXS6789-DXS6809, DXS7423-DXS10134, DXS10103-HPRTB-DXS10101, DXS10159-DXS10162-DXS10164, DXS10148-DXS10135-DXS8378, and DXS7132-DXS10079-DXS10074-DXS10075) of 331 Chinese Yi individuals were obtained. All 19 X-chromosomal short tandem repeat (STR) loci in females were consistent with the Hardy-Weinberg equilibrium test. A total of 214 alleles were identified with the corresponding allele frequencies spanned from 0.0019 to 0.6106. The combined PE, PDF, and PDM were 0.9999999214, 0.9999999999999999999993, and 0.9999999999998, respectively. The high combined MECKrüger, MECKishida, MECDesmarais, and MECDesmarais Duo were achieved as 0.9999999617638, 0.9999999999971, 0.9999999999971, and 0.9999999931538, respectively. The findings suggested that the panel of 19 X-STR loci is highly polymorphic and informative in the Yi ethnic population and can be considered to be a powerful tool in forensic complex kinship identification. Population differentiation analyses among 12 populations indicated that significant differences in genetic structure were observed in between the Yi ethnicity and the Chinese Uyghur as well as Kazakh, and genetic homogeneity existed in similar ethno-origin or geographic origin populations.

Analysis of four novel X-chromosomal short tandem repeats within 71kb of the Xp22.3 region.

DNA testing using X-chromosomal short tandem repeat (X-STR) polymorphisms has been used in maternity/paternity and complex kinship cases. Analyses of repeat sequences, surveys on racial statistics, and development of practical applications for DNA testing continue to be reported. In this study, we identified four novel tetranucleotide STR loci located in the X chromosome, which is the basis of X-STR research. These four tetranucleotide STRs were located within 71kb of the chromosome Xp22.3 region. Using sequence analysis of the structure of repeat sequences, we identified simple repeat sequences of TAAA, CTTT, TATC, and GATA with rare insertions. We then calculated forensic statistical parameters using base length analysis. In the Japanese population, the polymorphism information content was 0.597-0.687, power of discrimination in females was 0.829-0.884, and power of discrimination in males was 0.635-0.729. As these tetranucleotide STRs are closely linked, we conducted haplotype analysis and detected that three loci (LC149476, LC149479, and LC149480) were in linkage disequilibrium. We demonstrated that the simultaneous analysis of these loci may be useful in complex kinship cases. Because these four loci can be detected by multiplex PCR, the detection of alleles at these loci can be rapidly and easily achieved. We conclude that the X-STR loci detected in this study may be useful tools in complex kinship cases and may increase the reliability of genetic testing.

Forensic parameters of 19 X-STR polymorphisms in two Chinese populations.

Application of X-STRs as complements of autosomal STR application in the forensic genetics has become a tendency for kinship testing, especially in deficiency paternity cases. Recently, a novel kit of 19 X-STR loci was developed, which permitted the analysis of 19 STR in the same PCR reaction, and these markers can be clustered into seven groups for the physical linkage. The objective of this study was to evaluate the allele and haplotype diversity of 19 X-STR loci in the Uygur (n=220) and Tibetan nationality (n=270) and to estimate the usefulness for complex kinship analysis. In the Tibetan and Uygur populations, a total of alleles of all loci were 188 and 212, with the allele frequencies ranged from 0.0037 to 0.5593 and from 0.0045 to 0.5409, respectively. Compared with previous studies, DXS10135 was the most polymorphic locus in the two population groups, whereas the least variant locus was DXS10164 in the Uygur population and DXS7423 in the Tibetan nationality. Haplotype diversity obtained in this investigation was greater than 0.9 across all LGs. This study indicated the new kit could be used as a supplementary tool in kinship testing in China. In addition, the data sets can be used as supplementary national X-STR references to enlarge the database.

Vital Kinships: A Conversation with Eric Gansworth & Arigon Starr

70 WLT MAY–AUGUST 2017 Vital Kinships A Conversation with Eric Gansworth & Arigon Starr by Susan Bernardin A central yet surprisingly undernoted facet of Native arts production is its interrelationality. Whether innovating across genres or moving across expressive forms, many Native artists refuse to settle. In doing so, they make visible vital kinships between visual and verbal forms, between image and text. Arigon Starr, a comics artist and musician, and Eric Gansworth , a painter and writer, exemplify the dynamic multiplicity at the heart of contemporary Native aesthetics. This interview, begun with Arigon at the Indigenous Comic Con in Albuquerque and concluded via lively email exchanges, was fittingly interactive . Following Eric’s suggestions, I asked each of them different questions. They then shared their responses, prompting more exchanges. Our ensuing asynchronous conversations are represented in abridged form here. Although they have not yet met, Arigon and Eric found ample interconnections, both in their work and in their affinities for nerd culture and 1970s rock stars. Comic Origin Stories Susan Bernardin: Whether we define the comics medium in Scott McCloud’s words as “juxtaposed pictorial images and other images in deliberate sequence” or as a form of visual storytelling, it has proved a generative source for both of you. What role did reading and writing comics play in your development as an artist? What were its stylistic , narrative, or structural elements that appealed to you? In what ways have your tribal nations’ forms of visual storytelling influenced or enhanced your aesthetic? Eric Gansworth: I came to comics through TV, latching onto Batman before the age of two. As soon as I could read, I leaped onto comics, and in fourth grade I made a comic, which went on display at the school (wish I still had it, but I remember it well). So, it’s always been a part of my thinking lexicon. Haudenosaunee culture is very image-driven —wampum figures carrying our culture, representational beadwork—but I didn’t really begin exploring its possibilities as a refractory lens until the beginning of my professional career. I was always aware of those images. From day one, giant electrical towers looked like monstrous wampum men towering over our landscape. Arigon Starr: There have always been comic books in my life, from Sunday funnies to Archie to superheroes. I started drawing my own comics in junior high, often featuring my favorite musicians of the time (yes, I made George Harrison into a superhero called “Hippie Man”). My tribal influences came from seeing artwork from Oklahoma artists like Acee Blue Eagle and Solomon McCombs (both from the Muscogee Creek Nation), who used a flat color rendering style with thick, traced outlines. Those paintings looked like Indian Comics to me! Additionally , my Kickapoo uncle Rudolph Wahpecome was an artist and architect, so I knew that an Indian might be able to make a living as an artist. Afterlives and Novel Forms Bernardin: Although contemporary Native artists and writers often work in multiple media, you two are unusually ambidextrous: Arigon, you are a musician, playwright, and comics artist. Moreover, your Super Indian, like any good superhero, has many lives, moving from a radio series to serial web comic to published volumes. Eric, you are a painter, poet, and novelist whose books feature interrelated visual and narrative designs. The vital, complex kinship between literary and visual forms is a signature feature of your work. cover feature new native writing WORLDLIT.ORG 71 How do you each perceive the relationship between the moving parts or platforms of your work? What does each offer? What kinds of work do you see each performing? How do you see these different platforms or forms engaging different audiences? Gansworth: Comics prepared me for flexing both sides of my voice. While I compose differently, visual and verbal forms are all the same story to me, filtered through different facets. Maybe it’s close to performance artists like Laurie Anderson and Karen Finley and progressive bands like Rush and Pink Floyd. Long before music videos, both bands explored the synthesis of simultaneously presented images and songs. I also (being a weird kid) loved early German expressionist silent films. By the age of nine, I‘d...

Genetic diversity study on 12 X-STR loci of investigator® Argus X STR kit in Bangladeshi population

The X-chromosome short tandem repeat (STR) loci are of particular interest for solving complex kinship and paternity cases. Here, we report the genetic data from 209 unrelated Bangladeshi individuals (102 males and 107 females) that were genotyped using the 12 X-chromosomal STR markers included in the Investigator® Argus X-12 kit (Qiagen). The 12 X-STR markers are located in four linkage groups (linkage group I: DXS10135, DXS10148, and DXS8378; linkage group II: DXS7132, DXS10079, and DXS10074; linkage group III: DXS10103, HPRTB, and DXS10101; and linkage group IV: DXS10146, DXS10134, and DXS7423). Allelic frequencies of the 12 X-STR loci and haplotype frequencies of the four linkage groups were investigated. No significant difference was observed in the allele frequencies of males and females. Distributions of heterozygosity were observed from 64.5 to 92.5% among the studied 12 X STR loci. DXS10135 and DXS10101 loci were found to be most polymorphic. For all the four linkage groups, the haplotype diversity was found to be greater than 0.986. A total of 95, 73, 66, and 74 haplotypes were observed in linkage groups I, II, III, and IV, respectively. Hardy-Weinberg equilibrium tests showed no significant deviation from expected values for all 12 loci (p>0.05). The exact test for pairwise linkage disequilibrium for the 12 loci in the male samples did not show any significant linkage disequilibrium except the DXS10103 and DXS10101 loci after the p values were corrected by Bonferroni's correction for multiple testing (p>0.05/66). A combined power of discrimination in male and female individuals were 0.999999998159791 and 0.999999999999993, respectively. The combined mean exclusion chance were 0.999997635 in deficiency cases, 0.999999996 in normal trio cases, and 0.999999178 in duo cases. The currently investigated Bangladeshi population showed significant differences when compared with previously reported X-STR data from other 12 populations. The results of the data analysis indicated that all the loci in the Investigator® Argus X 12 kit were fairly informative and might be useful in forensic application and kinship analysis in Bangladeshi population.

Developmental validation of a custom panel including 273 SNPs for forensic application using Ion Torrent PGM

Utilizing massively parallel sequencing (MPS) technology for SNP testing in forensic genetics is becoming attractive because of the shortcomings of STR markers, such as their high mutation rates and disadvantages associated with the current PCR-CE method as well as its limitations regarding multiplex capabilities. MPS offers the potential to genotype hundreds to thousands of SNPs from multiple samples in a single experimental run. In this study, we designed a customized SNP panel that includes 273 forensically relevant identity SNPs chosen from SNPforID, IISNP, and the HapMap database as well as previously related studies and evaluated the levels of genotyping precision, sequence coverage, sensitivity and SNP performance using the Ion Torrent PGM. In a concordant study of the custom MPS-SNP panel, only four MPS callings were missing due to coverage reads that were too low (<20), whereas the others were fully concordant with Sanger's sequencing results across the two control samples, that is, 9947A and 9948. The analyses indicated a balanced coverage among the included loci, with the exception of the 16 SNPs that were used to detect an inconsistent allele balance and/or lower coverage reads among 50 tested individuals from the Chinese HAN population and the above controls. With the exception of the 16 poorly performing SNPs, the sequence coverage obtained was extensive for the bulk of the SNPs, and only three Y-SNPs (rs16980601, rs11096432, rs3900) showed a mean coverage below 1000. Analyses of the dilution series of control DNA 9948 yielded reproducible results down to 1ng of DNA input. In addition, we provide an analysis tool for automated data quality control and genotyping checks, and we conclude that the SNP targets are polymorphic and independent in the Chinese HAN population. In summary, the evaluation of the sensitivity, accuracy and genotyping performance provides strong support for the application of MPS technology in forensic SNP analysis, and the assay offers a straightforward sample-to-genotype workflow that could be beneficial in forensic casework with respect to both individual identification and complex kinship issues.

Population genetic data for 12 X-STR loci in the Northern Han Chinese and StatsX package as tools for population statistics on X-STR

The X-chromosomal short tandem repeat (X-STR) has the advantage in female traces identification against male contamination and in complex kinship cases. In this study, a total of 516 Northern Han Chinese were genotyped using the Investigator® Argus X-12 QS Kit and pairwise genetic distances (FST) were measured between Northern Han Chinese and 35 published populations using the same 12 X-STR loci in four presumed linkage groups (LG). Meanwhile, the StatsX package was compiled to aid the analysis of population statistics on X-STR. Off-ladder alleles were investigated by Sanger sequencing or next generation sequencing (NGS). The results showed that high combined PDM, PDF, MECKrüger, MECKishida, MECDesmarais and MECDesmarais Duo based on allele frequencies were achieved as 0.999999998, >0.999999999, 0.999996425, 0.999999993, 0.999999993 and 0.999998732, respectively, so did they based on haplotype frequencies. Averaged FST and multidimensional scaling (MDS) plot generally mirrored with the biogeography distribution of the studied populations and their historical relationships. A total of 16 unique off-ladder alleles were observed in this experiment, four of which have not been reported yet. The StatsX package could obtain full concordance with established software. Overall, the Investigator® Argus X-12 QS Kit may provide high polymorphic information for forensic identification and kinship analysis in the Northern Han Chinese population, and the StatsX package can make the workflow smoother for researchers to do population statistical analysis on X-STR.

Investigator® HDplex (Qiagen) reference population database for forensic use in Argentina

Currently, autosomal Short Tandem Repeat (STR) markers represent the method of election in forensic human identification. Commercial kits of most common use nowadays –e.g. PowerPlex®Fusion, Promega Corp.; AmpFlSTR GlobalFiler, Thermofisher scientific; Investigator 24Plex QS,Qiagen-, allow the co-amplification of 23 highly polymorphic STR loci providing a high discrimination power in human identity testing. However, in complex kinship analysis and familial database searches involving distant relationships, additional DNA typing is often required in order to achieve well-founded conclusions. The recently developed kit Investigator® HDplex (Qiagen) co-amplify twelve autosomal STRs markers (D7S1517, D3S1744, D12S391, D2S1360, D6S474, D4S2366, D8S1132, D5S2500, D18S51, D21S2055, D10S2325, SE33), nine of which are not present in the above mentioned kits, providing a set of efficient supplementary markers for human identification purposes. In this study we genotyped a sample of 980 individuals from urban areas of ten Argentinean provinces using the Investigator® HDplex kit, aiming to provide forensic estimates for use in forensic casework and parentage testing in Argentina. We report reference allelic frequency databases for each of the provinces studied as well as for the combined samples. No deviation of Hardy-Weinberg equilibrium was observed. A reasonable discrimination capacity and power of exclusion was estimated which allowed predicting an acceptable forensic behavior of this kit, either to be used as the main STR panel for simple cases or as an auxiliary tool in complex cases. Additionally, population comparison tests showed that the studied samples are relatively homogeneous across the country for these STR set.

Genetic polymorphism studies on 22 autosomal STR loci of the PowerPlex Fusion System in Bangladeshi population.

Genetic polymorphism of 22 autosomal STR loci included in PowerPlex® Fusion System (D3S1358, D1S1656, D2S441, D10S1248, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433, FGA and D22S1045) was studied in 188 unrelated Bangladeshi Bengali individuals. Allele frequencies and forensic efficiency parameters such as, the power of discrimination (PD), observed and expected heterozygosity (Ho & He), polymorphism information content (PIC), probability of match (PM), power of exclusion (PE) and typical paternity index was calculated for the loci. The combined PM and PE for all 22 STR loci were calculated to be 5.29×10-27 and 0.99999999945 respectively. The dataset indicated the usefulness of these loci in personal identification, parentage testing and complex kinship analysis in Bangladeshi population. A neighbor-joining tree was constructed based on pair-wise Nei's genetic distance by comparing allele frequency data for the 22 loci with six other populations. The analysis showed that Bangladeshi population lies closer to a clade consisting Japan, the Philippines and East Timot populations.

Reflections on Native Ethnography by a Nurse Researcher.

There are benefits and challenges associated with conducting research in a familiar setting, especially when the researcher is more an insider than an outsider. The aim of this article is to explore the author's experience as a native scholar conducting ethnographic research among the Swahili peoples of Lamu, Kenya. This article focuses on methodological issues related to conducting ethnographic research among the author's own people, including examining the issues of anthropological reflexivity as a native ethnographer and highlighting the author's experiences embodying multiple identities. Native ethnographers must consider the challenges associated with negotiating multiple roles in the research setting, especially in the presence of sociocultural factors such as gender stratification, complex kinship networks, socioeconomic hierarchies, illiteracy, and poverty. Embracing rather than being confused by the multiple levels of understanding native researchers bring to studies of their communities opens up new avenues of research and possibilities.

Genetic variation study of 12 X chromosomal STR in central Thailand population.

Genetic data from 12 short tandem repeats (STR) on the X chromosome are currently used in forensics studies to resolve issues related to complex kinship or when data is missing or ambiguous. In this study, we genotyped these 12 X chromosome STR in DNA collected from individuals from central Thailand (n = 391, 282 men and 109 women) and used this information to calculate allele and haplotype frequencies as well as forensic parameters for kinship calculations. Polymorphism information contents of the loci were range from 0.5283-0.9247, and powers of discrimination in females and males were 0.7666-0.9905 and 0.6085-0.9291, respectively. A diallelic pattern was observed at the locus DXS7132. Moreover, a comparison of genetic distance revealed a close relationship within Asian countries. Our results indicate that the X chromosomal short tandem repeat (X-STR) multiplex system provides highly informative genetic data and could be advantageous in forensic studies.

A SNP panel for identity and kinship testing using massive parallel sequencing.

Within forensic genetics, there is still a need for supplementary DNA marker typing in order to increase the power to solve cases for both identity testing and complex kinship issues. One major disadvantage with current capillary electrophoresis (CE) methods is the limitation in DNA marker multiplex capability. By utilizing massive parallel sequencing (MPS) technology, this capability can, however, be increased. We have designed a customized GeneRead DNASeq SNP panel (Qiagen) of 140 previously published autosomal forensically relevant identity SNPs for analysis using MPS. One single amplification step was followed by library preparation using the GeneRead Library Prep workflow (Qiagen). The sequencing was performed on a MiSeq System (Illumina), and the bioinformatic analyses were done using the software Biomedical Genomics Workbench (CLC Bio, Qiagen). Forty-nine individuals from a Swedish population were genotyped in order to establish genotype frequencies and to evaluate the performance of the assay. The analyses showed to have a balanced coverage among the included loci, and the heterozygous balance showed to have less than 0.5% outliers. Analyses of dilution series of the 2800M Control DNA gave reproducible results down to 0.2ng DNA input. In addition, typing of FTA samples and bone samples was performed with promising results. Further studies and optimizations are, however, required for a more detailed evaluation of the performance of degraded and PCR-inhibited forensic samples. In summary, the assay offers a straightforward sample-to-genotype workflow and could be useful to gain information in forensic casework, for both identity testing and in order to solve complex kinship issues.

Detection of a novel X-chromosomal short tandem repeat marker in Xq28 in four ethnic groups.

DNA testing of X-chromosomal short tandem repeat (X-STR) polymorphisms has been the focus of attention in several studies, mainly due to its applicability in the investigation of complex kinship cases. Studies of X-STR in analyses of DNA sequences, population studies and DNA testing applications have been reported. We performed detection and population genetic study of a novel tetranucleotide X-STR locus in the present study. We identified a unique X-STR locus consisting of two tetranucleotides in Xq28. Although the STR is a simple tetranucleotide, its polymorphism was comparatively high [polymorphism information content (PIC)=0.7140] in Japanese subjects. In addition, the STR varied in structure among ethnic groups. We conclude that this locus will be useful for forensic DNA testing and anthropological studies.

Metis and the Medicine Line: Creating a Border and Dividing a People, by Michel Hogue

Metis and the Medicine Line: Creating a Border and Dividing a People, by Michel Hogue. Regina, University of Regina Press and Chapel Hill, University of North Carolina Press, 2015. 352 pp. $34.95 Cdn (paper) $32.95 US (paper). Metis and the Medicine Line comes at a time of renewed focus on Metis history, one that recognizes the immense complexity of nineteenth century Metis life. Michel Hogue's work contributes to this discussion by handling Metis as complex boundary-crossing who, while having a clear sense of themselves as Metis, are deft navigators of the social and political categories used by outsiders to situate them in numerous legal orders, particularly those of the colonial states in their midst. While Metis and the Medicine Line focuses primarily on physically crossing the forty-ninth parallel, it also explores the many other ways that nineteenth-century Indigenous people crossed boundary markers of identity, legal status, and citizenship. Hogue threads sophisticated discussions of geography, identity, political economy, and the social, political, and economic impacts these structures had on Metis throughout the nineteenth, and into the early twentieth, century. One of the strengths of Hogue's work is the ease with which he moves back and forth detailing micro and macro social processes. He profiles the boundary-crossings of Metis families like the one headed by Antoine Oullette and Angelique Bottineau who crossed the forty-ninth parallel like many of their contemporaries, to take advantage of the shifting economic and political realities of the borderlands. These behaviours also reflect the larger movements of Metis people across the medicine line, while they--again at micro and macro levels--ascribed a different meaning to it than the westward expanding empires of the East. Equally important is Hogue's focus on the ways in which Metis adapt identity boundaries to meet their ongoing needs. Unlike older works, Hogue does over-determine Metis-First Nations separation, nor does he overstate their interchangeability. From the outset, Metis and the Medicine Line respects Metis social and political distinctiveness, while at the same time highlighting the closeness with which Metis held their Indian kin. It is clear from this work that Metis and First Nations had integrated one another into their family networks, becoming real and ceremonial kin using these ways to determine who belonged. Such kinship structures were also instrumental in establishing Metis inclusion (both individual and collective) in emerging colonial policies. Navigating these kinship systems was used to restrict Indigenous access to their lands by policing who was and who was not Indian. Like crossing physical boundaries, Metis and the Medicine Line, explores this other form of border-crossing which newly defined Halfbreeds and Indians sought to insert their self-understandings onto racial and social categories given form mostly by outsiders. These newly-formed policy boundaries often placed Metis families outside of Indianness, but complex kinship relations and still-unclear policy categories allowed Metis (and other Indigenous peoples) to strategically situate themselves as Indians or Halfbreeds, and American citizens or British subjects as circumstances required. Despite attempts by the colonial authorities to limit this kind of boundary-crossing, Hogue shows that this was easier done in theory than in fact. …

A new 17 X-STR multiplex for forensic purposes

The use of STRs located in the X chromosome (X-STRs) is very efficient for determining kinship between fathers and daughters as well as other complex kinship cases. Currently, X-STR markers are analyzed by using two different multiplexes, the decaplex of the GHEP-ISFG and the Investigator Argus X-12 Kit. Here, we present a new multiplex whose advantage is the analysis of 17 X-STRs in a single reaction. Population samples from four different continents were analyzed. A sensitivity test showed the efficacy of this new multiplex for samples with DNA quantities as low as 100pg.

Belarusian experience of the use of FamLinkX for solving complex kinship cases involving X-STR markers

Use of X-STR markers extends and gives additional possibilities to a forensic DNA expert for kinship analysis. FamLinkX is software for the calculation of likelihood ratios (LRs) for kinship cases based on X-STR DNA profiles that takes linkage and linkage disequilibrium as well as mutations of X-STR markers into account. Belarusian haplotype frequencies database of 360 unrelated Belarusian males has been uploaded to FamLinkX. LR values for 6 deficient paternity cases and 2 forensic cases involving two putative full siblings, females, were calculated with different values of lambda (λ=1, 10, 100) in order to account for uncertainties in the haplotype frequency estimation. To demonstrate the ethnic sensitivity of X-STR markers and importance of the choice of the appropriate X-STR population database for LR calculation we calculated LR values for the same kinship cases using Belarusian and Swedish X-STR databases. LR values for the same kinship case differed from each other up to 6000 times depending on the chosen database. X-STRs genotyping lets us to determine relatedness successfully in all cases whereas the results of autosomal STR profiling and mitochondrial sequencing (for the cases where only the samples of putative full-siblings were available) were not sufficient to resolve family relationships issues. LR values were considered to be high enough in all cases.

Genetic diversity of 12 X-chromosomal short tandem repeats in Jewish populations

Haplotype and allele frequencies of 12 X-STRs included in the Investigator Argus X-12 kit were studied for 313 individuals, representing five populations with known Jewish ancestry. The high efficiency in forensic parameters in all the populations studied demonstrates that this set of markers provides a powerful tool for solving complex kinship cases in Jewish populations.

Use of multi-InDels as novel markers to analyze 13 X-chromosome haplotype loci for forensic purposes.

Many studies have been proposed to identify insertion/deletion (InDel) polymorphisms in humans for forensic genetic studies. However, the discriminatory power of InDels is limited by the poor polymorphisms of diallelic markers. To improve their discriminatory power, we developed multi-InDel, a novel autosomal marker comprising more than two InDel loci that are tightly linked by their physical position and combined into a specific marker by a pair of PCR primers. This strategy gives at least three haplotypes for each multi-InDel marker. Such markers can be potentially very useful in forensic applications. In this study, we focused on multi-InDel markers located on X chromosome (ChrX). A multiplex system with 13 multi-InDel markers, including 28 InDel loci in ChrX, was developed. To validate the multi-InDel panel, the haplotype distribution in a population sample and in a set of pedigrees was investigated. This study demonstrates usefulness of these markers for individual identification and relationship studies. We highlight the fact that the multi-InDel markers located on ChrX can provide new supporting information for complex kinship testing.

AB048. X-chromosomal SNPs variation in populations of Russia

X-chromosome markers are informative tool for studying a genetic diversity in human populations and have become a useful in DNA identification when certain complex kinship cases need to be unravelled. In this work we present population genetic data on X-chromosome-wide SNPs in North Eurasian populations and report XSNP multiplex system for forensic genetics. A total of 2,867 X-chromosomal SNPs were genotyped in 12 populations using Illumina microarray platform. Twelve populations under study (Komi, Mordva, Russians, Kirghiz, Kazakh, Uzbek, Buryat, Yakut, Evenk, Tuva, Khanty, Ket) represent various language families and geographic regions of North Eurasia (Eastern Europe, Central Asia, Siberia and North Asia). North Eurasian populations are highly genetically differentiated with respect to XSNPs allele frequencies. Average level of genetic differentiation (Gst) for 12 populations is 6.03% and ranged from 1.05% to 30.05% per individual SNP. Principal component analysis of allele frequencies demonstrated geographic pattern of population clustering, as well as longitudinal gradient in genetic diversity. The 66 XSNPs characterized by high expected heterozygosity and linkage equilibrium in populations under study were selected for constructing a panel for forensic genetic applications. Average heterozygosity of selected SNPs varied from 0.4925 to 0.4958. Overall values of power of discrimination for males and females (PDm and PDf) obtained with these XSNPs set are several magnitude higher than those for standard forensic STR panels. Protocol for multiplex amplification of 66 XSNPs in two separate multiplex PCR reactions and MALDI-TOF mass spectrometry genotyping was developed. North Eurasian populations demonstrate high level of genetic diversity and differentiation for X-chromosome-wide SNPs. Based on obtained population genetic data, highly informative multiplex XSNPs panel for forensic genetics was developed.

PL02.1 Falling between the gaps: an overview of issues for aboriginal and torres strait islander women who want to be sexually healthy

<h3></h3> The family life of Aboriginal and Torres Strait Islander people is predominantly structured around complex kinship systems, which locate each person within a clan structure, with clear lines of rights and obligations to others within the family, the clan &nbsp;and ultimately the linguistic group. Children are highly valued by their families and clans. Until the recent past the education and socialisation of young children took place within the rhythms of family life with an emphasis on observation, imitation and interaction with extended family and their country. These ideals of family life have been radically disrupted for some families, particularly those that have suffered separation of children from their families, the destruction of extended family networks and the decades’ worth of living in oppressive circumstances, evidenced by poor health, early deaths, poor housing, poor educational outcomes, high unemployment and high numbers of Aboriginal people in custody. Despite these hardships, the Aboriginal and Torres Strait Islander family remains the primary and preferred site for developing and protecting culture and identity. In this context, sexual and reproductive health should be highly valued by Aboriginal and Torres Strait Islander women and health service settings that set priorities, specify outcomes, design appropriate services, allocate resources and evaluate the effectiveness and efficiency of the services delivered. In the absence of a coordinated national sexual health or Aboriginal and Torres Strait Islander women’s health strategy; the most vulnerable and marginalised community in Australian society is falling through the gaps in sexual and reproductive health, rather than closing the gap. This presentation will present issues for First Nations women in Australia and reflect on what we need to do to improve sexual health and wellbeing.