Identification and characterization of variant alleles at CODIS STR loci.

Abstract:

:Short tandem repeat (STR) profiles from 32,671 individuals generated by the ABI Profiler Plus and Cofiler systems were screened for variant alleles not represented within manufacturer-provided allelic ladders. A total of 85 distinct variants were identified at 12 of the 13 CODIS loci, most of which involve a truncated tetranucleotide repeat unit. Twelve novel alleles, identified at D3S1358, FGA, D18S51, D5S818, D7S820 and TPOX, were confirmed by nucleotide sequence analysis and include both insertions and deletions involving the repeat units themselves as well as DNA flanking the repeat regions. Population genetic data were collected for all variants and frequencies range from 0.0003 (many single observations) to 0.0042 (D7S820 '10.3' in North American Hispanics). In total, the variant alleles identified in this study are carried by 1.6% of the estimated 1 million individuals tested annually in the U.S. for the purposes of parentage resolution. A paternity case involving a recombination event of paternal origin is presented and demonstrates how variant alleles can significantly strengthen the genetic evidence in troublesome cases. In such instances, increased costs and turnaround time associated with additional testing may be eliminated.

journal_name

J Forensic Sci

authors

Allor C,Einum DD,Scarpetta M

keywords:

subject

Has Abstract

pub_date

2005-09-01 00:00:00

pages

1128-33

issue

5

eissn

0022-1198

issn

1556-4029

journal_volume

50

pub_type

杂志文章
  • An unusual case of multiple-gunshot suicide of an alcohol-intoxicated cancer sufferer with prolonged physical activity.

    abstract::Multishot firearm suicides are relatively rare and suggest the possibility of homicide. Physical activity following gunshots to the head, the neck, and the thorax does occur, and immediate incapacitation does not occur in every fatal gunshot wound that penetrates the head or perforates the heart. Cancer patients appea...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/1556-4029.12073

    authors: Marnerides A,Zagelidou E,Leontari R

    更新日期:2013-03-01 00:00:00

  • Self-Embedding Behavior in Adults: A Report of Two Cases and a Systematic Review.

    abstract::Self-embedding behavior (SEB) is the repeated insertion of sharp objects, such as needles or pins, into the soft tissues of abdomen, limbs, and other body parts. In this study, two cases of SEB were reported and the scientific worldwide literature reviewed. Thirty-two cases of SEB were identified through systematic se...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章,评审

    doi:10.1111/1556-4029.13359

    authors: Mannarino VS,Pereira DCS,Gurgel WS,Costa CBF,Valença AM,Fontenelle LF,Mendlowicz MV

    更新日期:2017-07-01 00:00:00

  • A validation study of the influence of alcohol on handwriting.

    abstract::The purposes of this article are to report experimental findings and to validate prior selected studies that examined handwriting comparisons and alcohol consumption. Subjects who participated in this experiment were given handwriting testing forms which were completed at assigned intervals throughout the testing peri...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Stinson MD

    更新日期:1997-05-01 00:00:00

  • Variability and similarity of gait as evaluated by joint angles: implications for forensic gait analysis.

    abstract::Closed-circuit television (CCTV) footage is used in criminal investigations to compare perpetrators with suspects. Usually, incomplete gait cycles are collected, making evidential gait analysis challenging. This study aimed to analyze the discriminatory power of joint angles throughout a gait cycle. Six sets from 12 m...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/1556-4029.12322

    authors: Yang SX,Larsen PK,Alkjær T,Simonsen EB,Lynnerup N

    更新日期:2014-03-01 00:00:00

  • Schizophrenia as a cause of death.

    abstract::Schizophrenia is a chronic disorder that is associated with increased mortality. Although traumatic deaths account for most of this increase, there is also an increased rate of natural deaths in this population. Altered autonomic physiology in this group might contribute to death. To determine if there are schizophren...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Rosh A,Sampson BA,Hirsch CS

    更新日期:2003-01-01 00:00:00

  • The distribution of ethanol in postmortem blood specimens.

    abstract::Ethanol was determined by gas chromatography in a variety of tissues and body fluids secured at autopsy in 61 cases. The specimens tested included right and left heart blood, femoral blood, pericardial fluid, cerebrospinal fluid, vitreous humor, urine, stomach contents, and brain. Statistical analysis of the cases rev...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Briglia EJ,Bidanset JH,Dal Cortivo LA

    更新日期:1992-07-01 00:00:00

  • Determination of human immunodeficiency virus antibody status in forensic autopsy cases using a rapid and simple FDA-licensed assay.

    abstract::Evaluation of an FDA-licensed rapid assay to detect antibodies to human immunodeficiency virus (HIV) was accomplished by testing 414 serum samples collected sequentially from autopsy cases at the Office of the Chief Medical Examiner, State of Maryland. The time of postmortem collection ranged from 8 to 30 hours. All s...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Li L,Constantine NT,Zhang X,Smialek JE

    更新日期:1993-07-01 00:00:00

  • Paternity testing: blood group systems and DNA analysis by variable number of tandem repeat markers.

    abstract::Two recent paternity cases are reported. In the first case of paternity exclusion, deoxyribonucleic acid (DNA) restriction fragment length polymorphisms (RFLPs) on variable number of tandem repeat (VNTR) loci with multiple alleles were informative, as well as established systems of red blood antigens, red cell enzymes...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Akane A,Matsubara K,Shiono H,Yuasa I,Yokota S,Yamada M,Nakagome Y

    更新日期:1990-09-01 00:00:00

  • Nondestructive Differentiation of Polyester Single White Fibers Using Synchrotron Radiation Microbeam X-ray Fluorescence Spectrometry with Vertical Focusing.

    abstract::In this study, the nondestructive differentiation of individual white polyester clothing fibers was accomplished via synchrotron radiation microbeam X-ray fluorescence (SR-μ-XRF) analysis. SR-μ-XRF with vertical focusing is a useful nondestructive method for the analysis of a single polyester clothing fiber. Kirkpatri...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/1556-4029.14481

    authors: Nishiwaki Y,Honda S,Yamato T,Kondo R,Kaneda A,Hayakawa S

    更新日期:2020-09-01 00:00:00

  • Distribution of allele frequencies for two tetranucleotide repeats (FES and D2S1328) among five Indian population groups.

    abstract:POPULATION:The distribution of allele frequencies have been analyzed at two short tandem repeat (STR) loci FES and D2S1328 among five anthropologically distinct ethnic groups of India namely Ezhavas, Nairs, Arayas, Vishwakarma and Muslims. Muslims are religio-ethnic group while other populations mentioned above belong ...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Ahmad S,Seshadri M

    更新日期:2004-03-01 00:00:00

  • Medico-legal investigations of the Airbus, A320 crash upon Mount Ste-Odile, France.

    abstract::The authors present the medico-legal investigations and identification after the aircrash of the Airbus A320 upon the Mount Sainte-Odile (France). The identification team comprising investigators from the gendarmerie, forensic pathologists, odontologists, and scientists of the Institute from Legal Medecine rapidly ret...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Ludes B,Tracqui A,Pfitzinger H,Kintz P,Levy F,Disteldorf M,Hutt JM,Kaess B,Haag R,Memheld B

    更新日期:1994-09-01 00:00:00

  • Fatal intoxication by tocainide.

    abstract::A 26-year-old woman committed suicide by ingestion of a large quantity of tocainide, a recently developed oral antiarrhythmic agent with chemical similarities to lidocaine. Blood and bodily fluid analysis by thin-layer chromatography, high pressure liquid chromatography, and mass spectroscopy confirmed the presence of...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Sperry K,Wohlenberg N,Standefer JC

    更新日期:1987-09-01 00:00:00

  • An investigation into the spatial elemental distribution within a pane of glass by time of flight secondary ion mass spectrometry.

    abstract::Advances in the technology employed for the manufacture of glass have resulted in a final glass product with little variability in terms of its physical and optical properties. For example, the refractive index of Australian float glass tends to lie between 1.5189 and 1.5194. It has therefore become necessary to compl...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/j.1556-4029.2007.00644.x

    authors: Coumbaros J,Denman J,Kirkbride KP,Walker GS,Skinner W

    更新日期:2008-03-01 00:00:00

  • Crossbow injuries.

    abstract::The crossbow is an uncommon source of fatal injury. In Los Angeles County, two crossbow homicides have occurred in the past 20 years. Following the second case, a crossbow was test-fired into a fresh pork thigh, resulting in distinctive wounds. Experimental studies also showed that the vanes of the bolt (arrow) may be...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Rogers C,Dowell S,Choi JH,Sathyavagiswaran L

    更新日期:1990-07-01 00:00:00

  • Genipin, a novel fingerprint reagent with colorimetric and fluorogenic activity, part II: optimization, scope and limitations.

    abstract::Genipin, a hydrolytic product of geniposide extracted from gardenia fruit, was thoroughly studied as a potential fingerprint reagent, and optimal conditions for fingerprint development have been determined. Latent fingerprints on paper items that have been treated with a non-ink running formulation containing 0.17% of...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Levinton-Shamuilov G,Cohen Y,Azoury M,Chaikovsky A,Almog J

    更新日期:2005-11-01 00:00:00

  • Postmortem assessment of fetal diaphyseal femoral length: validation of a radiographic methodology.

    abstract::Depending on the general condition of fetal remains, forensic specialists might face difficulties concerning age estimation. Reference tables and regression equations are helpful devices in this task, although they are generally applied for complete fetuses or fetal remains including soft tissues. However, the problem...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Adalian P,Piercecchi-Marti MD,Bourliere-Najean B,Panuel M,Fredouille C,Dutour O,Leonetti G

    更新日期:2001-03-01 00:00:00

  • Driver and front seat passenger fatalities associated with air bag deployment. Part 1: A Canadian study.

    abstract::Real world motor vehicle collision research of injuries due to deployment of "first-generation" air bags has been conducted by Transport Canada since 1993. Fifty-three fatal crashes (36 frontal impacts; 17 side collisions) involving 48 drivers and 10 right front passengers were reviewed. In the Canadian data, air bag ...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Shkrum MJ,McClafferty KJ,Nowak ES,German A

    更新日期:2002-09-01 00:00:00

  • Age Estimation in Living Adults using 3D Volume Rendered CT Images of the Sternal Plastron and Lower Chest.

    abstract::Age estimation is commonly of interest in a judicial context. In adults, it is less documented than in children. The aim of this study was to evaluate age estimation in adults using CT images of the sternal plastron with volume rendering technique (VRT). The evaluation criteria are derived from known methods used for ...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/1556-4029.12990

    authors: Oldrini G,Harter V,Witte Y,Martrille L,Blum A

    更新日期:2016-01-01 00:00:00

  • Development and validation of the AmpFℓSTR® Identifiler® Direct PCR Amplification Kit: a multiplex assay for the direct amplification of single-source samples.

    abstract::The AmpFℓSTR(®) Identifiler(®) Direct PCR Amplification Kit is a new short tandem repeat multiplex assay optimized to allow the direct amplification of single-source blood and buccal samples on FTA(®) card without the need for sample purification and quantification. This multiplex assay has been validated according to...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/j.1556-4029.2011.01757.x

    authors: Wang DY,Chang CW,Lagacé RE,Oldroyd NJ,Hennessy LK

    更新日期:2011-07-01 00:00:00

  • A Simple and Efficient Method of Extracting DNA from Aged Bones and Teeth.

    abstract::DNA is often difficult to extract from old bones and teeth due to low levels of DNA and high levels of degradation. This study established a simple yet efficient method for extracting DNA from 20 aged bones and teeth (approximately 60 years old). Based on the concentration and STR typing results, the new method of DNA...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/1556-4029.13603

    authors: Liu Q,Liu L,Zhang M,Zhang Q,Wang Q,Ding X,Shao L,Zhou Z,Wang S

    更新日期:2018-05-01 00:00:00

  • Taphonomy of hair--a study of postmortem root banding.

    abstract::Although it has been generally accepted within the forensic hair community that decompositional changes in the form of an identifiable banding pattern can occur in the root area of hairs after death, little detailed information with regard to this phenomenon is known (e.g., rates at which this occurs and conditions th...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/j.1556-4029.2012.02271.x

    authors: Koch SL,Michaud AL,Mikell CE

    更新日期:2013-01-01 00:00:00

  • Development of latent fingerprints using a corona discharge.

    abstract::A novel technique for the development of latent fingerprints is presented. It is based on placing a fingerprint-bearing object inside a corona discharge induced plasma. The development of various real and artificial fingerprints on metallic substrates under a wide range of conditions is studied. Using the results of t...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Halahmi E,Levi O,Kronik L,Boxman RL

    更新日期:1997-09-01 00:00:00

  • Airbag mediated death of a two-year-old child wearing a shoulder/lap belt.

    abstract::Airbag injuries have resulted in the deaths of several infants and small children, and such deaths are generally associated with rearward-facing infant seats or unrestrained children in front passenger seats of cars equipped with airbags. An airbag can also cause death in a small child wearing a shoulder/lap belt, how...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Cooper JT,Balding LE,Jordan FB

    更新日期:1998-09-01 00:00:00

  • Comparing Known and Reconstructed Circumstances of Death Involving a Blunt Force Trauma Mechanism through a Retrospective Analysis of 21 Skeletonized Individuals.

    abstract::Little is known about to what extent the events surrounding death can be reliably reconstructed from blunt force trauma analysis alone. In this study, we reconstruct circumstances of death from a blind blunt force trauma analysis using a sample of 21 individuals of known death circumstances, obtained from two identifi...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/1556-4029.13128

    authors: Marinho L,Cardoso HF

    更新日期:2016-11-01 00:00:00

  • Identification of ascorbic acid and its degradation products in black powder substitutes.

    abstract::Low explosives such as smokeless powder, black powder, and black powder substitutes have been used in illicit pipe bombings throughout the United States. Some of the newer black powder substitutes are formulated with ascorbic acid, which gradually decomposes as the powder ages, making it difficult if not impossible fo...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Goodpaster JV,Keto RO

    更新日期:2004-05-01 00:00:00

  • The Base Rate Study: Developing Base Rates for Risk Factors and Indicators for Engagement in Violent Extremism.

    abstract::Improvements have been made in identifying the prevalence of risk factors/indicators for violent extremism. A consistent problem is the lack of base rates. How to develop base rates is of equal concern. This study has two aims: (i) compare two methods for developing base rates; the Unmatched Count Technique (UCT) and ...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/1556-4029.14282

    authors: Clemmow C,Schumann S,Salman NL,Gill P

    更新日期:2020-05-01 00:00:00

  • The response of the Intoxilyzer 5000 to five potential interfering substances.

    abstract::A study was conducted of potential vapor phase interferents which could be present on human breath and also be capable of inducing a false-positive response for ethanol on the evidential infrared-based breath testing device, the Intoxilyzer-5000. This involved preparation and validation of a range of vapor standards, ...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Caldwell JP,Kim ND

    更新日期:1997-11-01 00:00:00

  • Hungarian population data on seven PCR-based loci.

    abstract::Hungarian population data for the loci LDLR, GYPA, HBGG, D7S8, Gc, HLA-DQA1, and D1S80 were generated. The genotype frequency distributions for the loci do not deviate from Hardy Weinberg expectations. Furthermore, there was little evidence for departures from expectations of independence between the loci. Using a tes...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Budowle B,Woller J,Koons BW,Furedi S,Errera JD,Padar Z

    更新日期:1996-07-01 00:00:00

  • Bayesian adaptive approach to estimating sample sizes for seizures of illicit drugs.

    abstract::A considerable amount of discussion can be found in the forensics literature about the issue of using statistical sampling to obtain for chemical analyses an appropriate subset of units from a police seizure suspected to contain illicit material. Use of the Bayesian paradigm has been suggested as the most suitable sta...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:10.1111/j.1556-4029.2011.01930.x

    authors: Moroni R,Aalberg L,Reinikainen T,Corander J

    更新日期:2012-01-01 00:00:00

  • Improving the effectiveness of fluorescence for the detection of semen stains on fabrics.

    abstract::The paper describes the use of the Polilight, a light source based on a xenon arc lamp, to exploit the fluorescence properties of semen as an aid to searching fabrics for stains in sexual assault cases. The broad excitation spectrum of semen allows the fluorescence to be generated at a range of wavelengths. This permi...

    journal_title:Journal of forensic sciences

    pub_type: 杂志文章

    doi:

    authors: Kobus HJ,Silenieks E,Scharnberg J

    更新日期:2002-07-01 00:00:00