贵州地区汉族Penta D和Penta E基因座遗传多态性

有关Penta D和PentaE基因座遗传多态性调查,国内外文献已有多篇,但尚无对我国贵州地区的遗传学数据报道,为此本文进行了调查,现报道如下。     

用新设计引物调查武汉汉族Penta D和Penta E基因座遗传多态性

目的　研究PentaD和PentaE基因座分型引物设计 ,调查PentaD和PentaE基因座在武汉汉族人群中的遗传多态性。方法　用重新设计的PentaD和PentaE基因座分型引物 ,采用热启动PCR和PAGE技术对 2 81名武汉地区汉族无关个体进行分型调查 ,并将其分型结果与Promega公司的PowerPlexTM16系统荧光标记复合扩增试剂盒分型结果进行比较。结果　新设计引物扩增产物的片段大小范围分别为 15 3～ 198bp和 10 7～ 2 12bp ,其分型结果与PowerPlexTM16系统的分型结果完全一致 ,且用银染法检测的灵敏度显著提高 (由 0 5ng提高到 0 2ng)。PentaD和PentaE基因座在武汉汉族群体分别检出 10个和 2 1个等位基因 ,其基因型频率分布均符合Hardy Weinberg平衡。家系调查证实了其等位基因的传递符合孟德尔遗传规律。两基因座的个体识别能力 (DP)分别为 0 92 62、 0 9860 ,非父排除率 (PE)分别为 0 665 1、 0 83 2 5。结论　新设计引物用于PentaD和PentaE基因座的分型检测准确可靠 ,两基因座多态性程度高 ,在法医学个人识别和亲子鉴定中具有使用价值。     

Variant alleles on the penta E locus in the PowerPlex 16 kit

Penta E in the PowerPlex 16 kit is a pentanucleotide tandem repeat marker located on Chromosome 15, containing an AAAGA repeat motif. Variant alleles (18.4 and 19.4) were found in the Japanese population. A sequence analysis revealed that both the variant alleles had a partial repeat motif of AAAA, resulting in one-base-shorter alleles compared to known alleles. Despite the relatively large amplicon sizes (379 to 474 bp) of Penta E, an accurate allele assignment can be reliably made by capillary electrophoresis. However, alleles differing in size by only one base (e.g., 18.4 and 19) were not separated and appeared as a single broad peak. The Genotyper software assigned one of the component alleles to this peak. Therefore, such broad peaks require careful interpretation so as to not overlook the other component allele contained by the peak. As an index to recognize a peak containing two alleles, the ratio of peak area to peak height was found to be useful.     

Characterization of the variant allele 9.2 of Penta D locus

DNA profiles of forensic cases of Córdoba Province, Argentina, typed by PowerPlex 16 kit (Promega), have shown in the Penta D locus few samples with a variant allele migrating as an off ladder between alleles 9 and 10. In order to determine the molecular basis of the new variant allele, three samples were subject to polymerase chain reaction amplification of the Penta D locus by monoplex, and were further purified and sequenced. The sequence analysis revealed that the off ladder allele has ten repeats motifs AAAGA as allele 10, with three nucleotides (TAA) deletion in the 3' flanking region, 128 nucleotides after the last repeat. Therefore, the variant allele could be explained by a deletion of allele 10, and was designated 9.2. Mse I digestion assay allows to corroborate allele 9.2 without sequencing. A population study in Córdoba Province indicates that allele 9.2 of Penta D locus has a frequency of 0.0063.     

STR data for SGM Plus and penta E and D loci in a population sample from south Poland

Frequency data of short tandem repeats loci included in the SGM Plus kit and on two pentanucleotide STR loci: Penta E and Penta D [Profiles DNA 2 (1998) 2] included in the PowerPlex16 kit were collected from a sample of 400 (for SGM Plus) and 91 (for Penta E and Penta D) random, unrelated individuals born in the South Poland region.     

Characterization and validation studies of powerPlex 2.1, a nine-locus short tandem repeat (STR) multiplex system and penta D monoplex

In order to increase the power of discrimination for human identification purposes, a nine-locus short tandem repeat (STR) multiplex, the GenePrint PowerPlex 2.1 system (PowerPlex 2.1) developed by Promega Corporation and a separate pentanucleotide-repeat locus, Penta D, were tested. This megaplex system includes the highly polymorphic loci FGA, TPOX, D8S1179, vWA, Penta E, D18S51, D21S11, TH01, and D3S1358 and may be used in combination with the eight-locus STR multiplex, the GenePrint PowerPlex 1.1 system (PowerPlex 1.1) that has been previously developed. Three of the loci, TPOX, TH01 and vWA, have been included in both systems for quality control purposes. As with PowerPlex 1.1, PowerPlex 2.1 is also based on a two-color detection of fluorescent-labeled DNA products amplified by polymerase chain reaction (PCR) and provides a valuable tool for accurate and rapid allele determination. The primer sequences used in the PowerPlex 2.1/Penta D system are also presented in this report. To meet the "Quality Assurance Standards for Forensic DNA Testing Laboratories" (FBI), we tested the efficiency and reproducibility of the PowerPlex 2.1/PentaD system by several validation studies that were conducted as a joint project among seven laboratories. Validation tests included concordance studies, sensitivity, and species specificity determination, as well as performance in forensic and environmentally impacted samples. The results produced from these tests demonstrated the consistency and reliability of the PowerPlex 2.1/Penta D system.     

Validation of Half‐Reaction Amplification Using Promega PowerPlex® 16*

Abstract: DNA amplification is a fundamental yet costly process used in DNA analysis. This study evaluated half‐reaction amplification (12.5, 12, and 13 uL) using the Promega Powerplex^® 16 Kit with the hope of reducing sample analysis costs by half. A sensitivity study was completed, along with the testing of various blood stain samples including those with low (<0.40 ng) and high DNA concentrations (>3.0 ng), peak height imbalances, and allelic drop‐out. Also, 467 samples submitted to the MUFSC laboratory for testing were analyzed. Results indicate that half‐reaction amplification produced higher quality profiles than full‐reactions. Average peak heights increased by 85%, peak height imbalances improved, and drop‐out was eliminated in 75.8% of samples. Only eight of 467 case samples required re‐amplification, a success rate of 94% was observed, and the repeat rate decreased significantly. Finally, a DNA input of 0.25–1.0 ng is ideal for half‐reaction amplification.     

Allele frequency distribution based on 17 STR markers in three major Dravidian linguistic populations of Andhra Pradesh, India

Allele frequencies for 15 tetranucleotides and 2 pentanucleotides repeat loci were determined in 317 unrelated, healthy individuals of Andhra Pradesh, India, belonging to three pre-dominant endogamous populations namely, Kappu Naidu, Kamma Chaudhary and Kapu Reddy. Adherence to the expectations of the Hardy-Weinberg equilibrium (HWE) was confirmed for all loci with few exceptions, which were not significant after applying Bonferroni's correction. Statistical parameters of forensic interest; observed heterozygosity, probability of homozygosity, probability of extact test, power of discrimination, match probability, polymorphism information content, power of exclusion and mean paternity index were determined for all loci. The present study reveals that Penta E and D2S1338 are the most informative loci in all the studied populations. The combined power of discrimination was greater than 0.976, whereas the cumulative power of exclusion gave an expected value of 0.9999 for all the tested microsatellite loci. No difference was observed in the discriminatory power of 15 loci in studied populations on comparison with other populations of India. Population differentiation tests revealed significant differences between the studied and neighboring populations at several loci. Analyzed parameters indicate the utility and efficacy of the studied 17 STR systems as a powerful tool in forensic human identification, paternity testing and human population genetic studies.     

Detection of genotype recycling fraud in U.S. immigrants

Abstract: Relationship testing laboratories provide genetic evidence to support or refute claims of kinship between U.S. citizen petitioners and potential immigrant beneficiaries. One female beneficiary presented a male amelogenin type and alleles at 15 autosomal loci that were identical to an alleged brother’s. Laboratory records showed that her alleged father had petitioned to have 15 children emigrate from Ghana. The petitioner’s 15 paternity indices exceeded 10⁵, but the children shared only four short tandem repeat (STR) profiles, suggesting fraudulent reuse of genotypes in this alleged pedigree (AP). To determine the extent of this “genotype recycling,” I examined the laboratory’s 555 APs from Ghana and 532 control APs from Nigeria. Seventeen Ghanaian APs (3.1%) but no Nigerian APs showed genotype recycling. Of 90 tested people in the 17 APs, 56 shared identical STR profiles with others in their AP. Of these 56 people, 10 were petitioners with unexpectedly high parentage indices. Seven of 56 had amelogenin types that disagreed with their declared genders. Database searches for identical multilocus genotypes in allegedly different people would best detect this fraud.     

Genetics and genomics of core short tandem repeat loci used in human identity testing

Over the past decade, the human identity testing community has settled on a set of core short tandem repeat (STR) loci that are widely used for DNA typing applications. A variety of commercial kits enable robust amplification of these core STR loci. A brief history is presented regarding the selection of core autosomal and Y-chromosomal STR markers. The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing. Internet resources for additional information on core STR loci are reviewed. Additional topics are also discussed, including potential linkage of STR loci to genetic disease-causing genes, probabilistic predictions of sample ethnicity, and desirable characteristics for additional STR loci that may be added in the future to the current core loci. These core STR loci, which form the basis for DNA databases worldwide, will continue to play an important role in forensic science for many years to come.     

Bhartṛhari and Maṇḍana on Avidyā

The concept of avidyā is one of the central categories in the Advaita of Śaṇkara and Maṇḍana. Shifting the focus from māyā, interpreted either as illusion or as the divine power, this concept brings ignorance to the forefront in describing duality and bondage. Although all Advaitins accept avidyā as a category, its scope and nature is interpreted in multiple ways. Key elements in Maṇḍana’s philosophy include the plurality of avidyā, individual selves as its substrate and the Brahman as its field (viṣaya), and the distinction in avidyā between non-apprehension and misapprehension. A closer investigation shows that Maṇḍana is directly influenced by Bhartṛhari’s linguistic non-dualism in developing the concept of avidyā. This study also compares other key constituents such as vivartta and pariṇāma that are relevant to the analysis of avidyā. As the concept of counter-image (pratibimba) emerges as a distinct stream of Advaita subsequent to Maṇḍana, this study also compares the application of pratibimba in the writings of Bhartṛhari and Maṇḍana.     

Unraveling the <Emphasis Type="Italic">Kāvyaprakāśa</Emphasis>: Jayadeva Pīyūṣavarṣa’s idiosyncratic sequence of topics in the <Emphasis Type="Italic">Candrāloka</Emphasis>

In his twelfth century alaṃkāraśāstra, the Candrāloka, Jayadeva Pīyūṣavarṣa reverses the sequence of topics found in Mammaṭa’s Kāvyapr-akāśa, an earlier and immensely popular work. With such a structural revisionism, Jayadeva asserts the autonomy of his own work and puts forth an ambitious critique of earlier approaches to literary analysis. Jayadeva investigates the technical and aesthetic components of poetry in the first part of the Candrāloka, prior to his formal semantic investigations in the latter half of the text, thus suggesting that aesthetic evaluations of poetry beneficially inform scientific investigations of language. Jayadeva’s organization of his chapters on the semantic operations, moreover, intimates that the study of suggestive and metaphoric functions of language clarifies our understanding of denotation, which is conventionally understood to be the primary and direct path of verbal designation.     

Immigration,intermarriage and the changing face of Europe in the post war period

In this article we compare the propensity to intermarry of various migrant groups and their children who settled in Germany, France, England, Belgium and the Netherlands in the post-war period, using a wide range of available statistical data. We try to explain different intermarriage patterns within the framework of Alba and Nee's assimilation theory and pay special attention to the role of religion, colour and colonial background. We therefore compare colonial with non colonial migrants and within these categories between groups with ‘European’ (Christian) and non-European (Islam, Hinduism) religions. First of all, religion appears to be an important variable. Migrants whose faith has no tradition in Western Europe intermarry at a much lower rate than those whose religious backgrounds correspond with those that are common in the country of settlement. The rate of ethnic endogamous marriages in Western Europe are highest in Hindu and Muslim communities, often regardless if they came as guest workers or colonial migrants. Whereas differences in religion diminish the propensity to intermarry, colour or ‘racial’ differences on the other hand seem to be less important. This is largely explained by the pre-migration socialisation. Furthermore, the paper argues that the attention to institutions, as rightly advocated by Richard Alba and Victor Nee, needs a more refined and layered elaboration. Institutions, often as barriers to intermarriage, do not only emanate from the receiving society, but also—be it less formalized—within migrant communities. Especially religions and family systems, but also organized nationalist feelings, can have a profound influence on how migrants think about endogamy. Finally, strong pressures to assimilate, often through institutionalized forms of discrimination and stigmatization, not only produce isolation and frustrate assimilation (with resulting low intermarriage rates), but can also stimulate assimilation by 'passing' mechanisms. These factors, together with a more comparative perspective, are not completely ignored in the new assimilation theory, but—as this study of Western European intermarriage patterns stresses—deserve to be included more systematically in historical and social scientist analyses.