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At least 775 records · Page 43Linked to original sources
PubMed1996

Production of monoclonal anti-thymine-dimer antibody and its use for detection of STR alleles.

To simplify the manual detection of STRs, we developed an immunoblotting method using an anti-thymine-dimer antibody. Upon ultraviolet irradiation, adjacent thymine residues in a DNA strand readily form thymine dimers which are detectable by anti-thymine-dimer antibody. We simply irradiated the supernatant of a boiled suspension of P3U1 myeloma cells with ultraviolet rays, and immunized BALB/c mice with it. By fusing their popliteal lymph node cells with the P3U1 myeloma cell line, we produced a monoclonal anti-thymine-dimer antibody. Using this antibody, we were able to detect STR alleles containing AAAG, AAGG, or AATG repeats by immunoblotting. Our method is well suited for use in parentage testing.

Alleles↗
PubMed1996

[Ultrastructural surface properties in Columbicola columbae s. str. (Esthiopteridae, Mallophaga-Ischnocera) from domestic pigeons].

All post-embryonal stages of Columbicola columbae columbae (L.), the common parasite of pigeon, were investigated with regard to morphology, particularly surface ultrastructures. Many qualitative characters differing C. columbae s. str. from the investigated up to now species of Mallophaga were found in SEM. They are among others double lateral protuberances of head (clavus and clavulus) as well as parallel sculpture of pore organs on the last two segments of antennae. The structures showed at the photograms were interpreted with regard to their functions.

Animals↗
PubMed1997

The effects of fingermark enhancement light sources on subsequent PCR-STR DNA analysis of fresh bloodstains.

This paper describes a study designed to investigate the effects of light sources used to enhance fingermarks on the subsequent polymerase chain reaction (PCR)-short tandem repeat (STR) analysis of bloodstains. Dried bloodstains on glass were exposed for up to 30 min to five different light sources: Argon ion laser, Polilight UV, Polilight green, Superlite, and shortwave UV. The bloodstains were subsequently analyzed using a quadruplex PCR system. It was found that treating the bloodstains with four of the five light sources had no appreciable effect on the results obtained from subsequent PCR analysis. However, exposure of the bloodstains to shortwave UV light for more than 30 s precluded the acquisition of results from PCR testing. Therefore, under casework conditions, it would be preferable to avoid exposing bloodstains, on which PCR typing is to be performed, to shortwave UV.

Argon↗
PubMedDate not supplied

PCR analysis of the STR HUMF13A01 in a population sample of central Italy.

A population genetic study was carried out on an Italian sample of Central Italy (n = 159) using the short tandem repeat (STR) system HUMF13A01. After vertical electrophoresis in denaturing polyacrylamide gel, 11 alleles were found. No deviation from the Hardy-Weinberg equilibrium were observed. The power of discrimination (PD) was 0.91 and the chance of exclusion was 0.59. The allelic comparison with previous Italian population studies showed no significant difference.

Gene Frequency↗
PubMedDate not supplied

Y-chromosome STR loci in Sardinia and continental Italy reveal islander-specific haplotypes.

Six Y-linked tetranucleotide microsatellites were typed in a sample of continental Italians and Sardinians. Significant differences in allele distributions were found between peninsular Italy and the island. Patterns of distinct allelic associations were evident in Sardinia and in the mainland. STR haplotypes in a subset of Sardinian chromosomes were monophyletically related and indicated that additions/deletions of a single tetranucleotide unit had to sequentially occur within a historical time-scale (about 9,000 years). Assumptions on both the time elapsed since the peopling of the island and the number of mutational events led us to estimate (by three different methods) a rate of 2.7-11 x 10(-4) mutations per generation per locus--at the upper end of the range of values reported in the literature.

Gene Frequency↗
PubMed1998

[Distribution of three STR loci in Jingpo ethnic group in Yunnan province].

OBJECTIVE: This study was aimed at the use of old blood stains for investigating the distribution of three STR loci in Jingpo ethnic group. METHODS: DNA extraction from old blood stains (106 in number) and multiplex amplification of CSF1PO, TPOX and TH 01 were carried out. Using denaturing polyacrylamide gel electrophoresis and silver stain, the authors investigated the distribution of allele frequencies of CSF1PO, TPOX and TH01 loci in a Jingpo ethnic group in the southwestern part of Yunnan province. RESULTS: 7 alleles and 26 genotypes of CSF1PO locus,7 alleles and 19 genotypes of TPOX locus, and 6 alleles and 18 genotypes of TH01 locus were observed. CONCLUSION: The satisfactory results demonstrate that multiplex amplification of CSF1PO, TPOX and TH01 is sensitive and the old stain of a drop of blood is sufficient for such amplification.

Asian People↗
PubMed1998

[Genetic polymorphism of STR loci D19S253 and D8S1179 for Han population in Wuhan].

OBJECTIVE: This article reports a population genetic study on two short tandem repeat loci, D19S253 and D8S1179, in a sample of unrelated Chinese individuals(n=225-233) living in Wuhan. METHODS: PCR and PAGE. RESULTS: Nine alleles were identified for the two loci, the ranges of fragment size were 209bp-241bp and 174bp-206bp respectively. The genotypes distributions of D19S253 and D8S1179 were in accordance with Hardy-Weinberg equilibrium. Family studies confirmed Mendelian inheritance of alleles. No mutation was detected in 100 meiosis for the two STR loci studied. The observed heterozygosities of D19S253 and D8S1179 were 0.8089 and 0.8712. The polymorphism information content(PIC) in Chinese was calculated as 0.7754 for D19S253 and 0.8258 for D8S1179. The power of discrimination(PD) and mean exclusion chance(MEC) were 0.9309 and 0.6133 for D19S253 and 0.9515 and 0.6874 for D8S1179 respectively. The combined PD and cumulative chance of exclusion were calculated as 0. 9966 and 0.8791. CONCLUSION: The results demonstrate that the combined use of the two polymorphic systems provides a high power of discrimination and power of exclusion for use in forensic identification and paternity testing.

Alleles↗
PubMed1998

Comparison of allele frequencies of eight STR loci from Argentinian Amerindian and European populations.

Eight STR systems (THO1, FABP, VWA, FES/FPS, HPRTB, F13A1, CSF1PO, and D6S366) were investigated in different ethnic groups of Argentina. Allele and genotype frequencies, power of exclusion, and discriminative power were investigated. Hardy-Weinberg expectations were calculated from heterozygosity levels. FST and G tests demonstrated that significant differences exist among the investigated populations for some of the eight STRs markers. The Wichi Indians are clearly separated from the Mapuche and Tehuelche, who in turn are closer to the European population, suggesting non-Amerindian admixture.

Argentina↗
PubMed1998

[Distribution of three STR loci in Dai ethnic group in China].

OBJECTIVE: This study was conducted to investigate the distribution of three STR loci in Dai ethnic group. METHODS: Multiplex amplifications of CSF1PO, TPOX and TH01 were carried out. Using denaturing polyacrylamide gel electrophoresis and silver staining the authors investigated the distribution of allele frequencies of CSF1PO, TPOX and TH01 loci in Dai ethnic group living in Yunnan province. RESULTS: 7 alleles and 15 genotype of CSF1PO locus, 7 alleles and 18 genotypes of TPOX locus, 6 alleles and 17 genotypes of TH01 locus were observed. CONCLUSION: The allele distribution of the loci is in good agreement with the Hardy-Weinberg equilibrium.

China↗
PubMed1998

Unnecessary surgical operation confirmed by individual identification by analyses of several short tandem repeat (STR) loci.

A 60-year-old man who was diagnosed as having hepatic cell carcinoma by needle punch biopsy from the liver, underwent right hepatic lobectomy. However, no malignant components were detected in the removed tissue. It was suspected that he was the wrong patient and had undergone the operation unnecessarily. Individual identification was performed using paraffin blocks of his liver tissue taken by needle punch biopsy, that of liver tissue taken at surgery and his peripheral blood by genotyping several STR loci. All of these specimens had the same genotypes. Histological re-examination revealed that the biopsied sample contained no malignant component. The end result was that the initial biopsied liver specimen was misdiagnosed as hepatic cancer and the patient underwent an unnecessary operation due to misdiagnosis.

Biopsy, Needle↗
PubMedDate not supplied

New STR at the D5S373 locus and its relevance in human population studies.

The genetic analysis of a new trinucleotide repeat (D5S373) was carried out with a view to its application in both individual genetic profiling and human population genetics. In a screening analysis from seven world populations (n = 706) and after nucleotide sequence analysis, up to nine alleles were found corresponding to 8-13 repetitions of a TAA motif. This analysis shows He values ranging between 0.689-0.762. D5S373 reveals interpopulational variability which leads to specific frequency profiles in the major human groups, with alleles 8, 11, l2, and 13 being particularly informative, which suggests the that this marker may be of interest in the biological study of human populations.

Africa, Western↗
PubMedDate not supplied

Y-STR haplotype diversity in distinct linguistic groups from East Timor.

East Timor is a country which harbors multiple ethnolinguistic groups generally assigned to an Austronesian or Papuan ancestry. The present study aimed to characterize Y-chromosome haplotype diversity in East Timor, and to test possible population structures based on linguistic and/or geographical information. Using a set of 12 Y-chromosome-specific STRs (DYS19, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, and DYS439), haplotypes were established in 342 individuals from 12 linguistic groups (Tetum, Kwaimina, Galoli, Wetarese, Dawan, Mambai, Kemak, Tokodede, Bunak, Makasai, Makalero, and Fataluku) belonging to the three major ethnolinguistic groups in East Timor: two from the Timorese-Austronesian branch (Fabronic and Ramelaic), and a third including languages related to a Trans-New Guinea phylum (Papuan). High values of haplotype diversity, average gene diversity, and mean number of pairwise differences per locus were found in all 12 linguistic groups, except for the Wetarese from the island of Ataúro. Analysis of genetic variance (AMOVA) and pairwise genetic distance analysis showed that the East Timor population is genetically structured, and if the Bunak and Wetarese are excluded, samples group well with respect to their language affinities, and furthermore, the most genetically homogeneous groups are those following the broad ethnolinguistic classifications. Bunak and Wetarese behave as outsider groups, and are genetically more closely related to populations classified in a different linguistic group.

Asian People↗
PubMed2006

Highly polymorphic STR marker amplified with human DYS389 primers in Japanese macaques (Macaca fuscata).

Amplification products from male and female Japanese macaques were obtained by PCR with human Y-chromosomal DYS389 primers. These products were examined by electrophoresis and sequence analysis. The PCR products from the 12 Japanese macaques tested had different band patterns on an electrophoretogram. Sequence analysis of the products revealed that the high polymorphism originated from variable numbers of repeats of two separate CTAT sequences. The sequences of the Japanese macaque products were similar to those of the reference human DYS389 sequence. However, variable CTGT repeats and a difference in the second forward primer binding site yielded two products in human males, DYS389I and DYS389II, which do not exist in Japanese macaques. Our results suggest that the human DYS389 primers may be a potential tool not only for distinguishing between human and Japanese macaque DNA samples, but also for identifying individual macaques, because of the highly polymorphic alleles.

Animals↗
PubMed1997

DNA analysis in disputed parentage: the occurrence of two apparently false exclusions of paternity, both at short tandem repeat (STR) loci, in the one child.

In cases of disputed paternity investigated by DNA analysis, it is generally accepted that at least two independent exclusions be observed before concluding that a putative father is not the biological father of the child. We report here a case in which two apparent exclusions of paternity were obtained (at the loci FESFPS and TPOX), from a total of nineteen loci examined (short tandem repeats, AMFLPs, DQA1, Polymarkers). The combined paternity index of the other seventeen loci, and of two multilocus probes (33.15 and 33.6) would exceed twenty-eight trillion to one. In the absence of any alternative putative father (including close relatives of the man tested), we concluded that the most likely explanation for these results was that the putative father was indeed the biological father, but that two independent mutations had occurred in either the ovum and/or spermatozoon. We have altered our internal laboratory criterion for exclusion of paternity to require exclusions in three independent loci.

Alleles↗
PubMed1998

Short tandem repeat (STR) locus HUMD8S306 in a large population sample from Germany.

Applied DNA typing in medico-legal investigations, in criminalistic practice, and in paternity cases often relies on high inclusion and exclusion probabilities. For that reason, the short autosomal tandem repeat locus D8D306 was validated for forensic use and incorporated into a nonoverlapping multiplex reaction with HUMDHFRP2 and HUMCD4: The allele frequencies of D8S306 in four different regions of Germany (n = 1220 alleles) were determined for use in a population database; the allele distributions did not significantly deviate from each other. The hererozygosity of D8S306 is 83%, expected exclusion chance in stain cases is 96% (paternity cases: 69%), the lowest amount of successfully amplified DNA was 30 pg. The alleles are in Hardy-Weinberg equilibrium.

Alleles↗
PubMed2006

Unknown biological mixtures evaluation using STR analytical quantification.

Allelic quantification of STRs, where the presence of three or more alleles represents mixtures, provides a novel method to identify mixtures from unknown biological sources. The allelic stutters resulting in slightly different repeat containing products during fragment amplification can be mistaken for true alleles complicating a simple approach to mixture analysis. An algorithm based on the array of estimated stutters from known samples was developed and tuned to maximize the identification of true non-mixtures through the analysis of three pentanucleotide STRs. Laboratory simulated scenarios of needle sharing generated 58 mixture and 38 non-mixture samples that were blinded for determining the number of alleles. Through developing and applying an algorithm that additively estimates stuttering around the two highest peaks, mixtures and non-mixtures were characterized with sensitivity of 77.5, 82.7 and 58% while maintaining the high specificity of 100, 97.4 and 100 for the W, X, and Z STRs individually. When all three STRs were used collectively, the resulting sensitivity and specificity was 91.4 and 97.4%, respectively. The newly validated approach of using multiple STRs as highly informative biomarkers in unknown sample mixture analyses has potential applications in genetics, forensic science, and epidemiological studies.

Algorithms↗
PubMed2004

Prenatal diagnosis of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular studies with multiplex STR analysis.

OBJECTIVES: To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. CASE AND METHODS: A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization revealed the existence of a Y centromere on the marker chromosome. Analysis with six pairs of short tandem repeat markers showed that the genomic DNA extracted from the uncultured amniotic fluid cells contained a deletion of Yq11.1-Yq11.2. Spermatogenesis loci of the Y chromosome were studied using four sets of multiplex PCR. The proximal two markers DYS271 and KALY were present and the other 16 distal markers were deleted. No deletion was noted in the Y chromosome of the father. RESULTS: Cytogenetic and molecular analyses revealed deletions of AZFb, d, and c regions on Yq11.2-Yqter in the fetal Y chromosome. Postmortem examination of the fetus showed a grossly normal male fetus with normal external genitalia and testes. CONCLUSION: The present report demonstrates that molecular analysis using polymorphic microsatellite markers and multiplex PCR is a useful complement to cytogenetic methods for the identification and the characterization of Y-chromosomal deletions.

Adult↗