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Genetic mapping of 14 short tandem repeat polymorphisms on human chromosome 22.

We have constructed a linkage map of 14 short tandem repeat polymorphisms (11 with heterozygosity > 70%) on the long arm of human chromosome 22 using 23 non-CEPH pedigrees. Twelve of the markers could be positioned uniquely with a likelihood of at least 1,000:1, and distributed at an average distance of 6.62 cM (range 1.5-16.1 cM). The sex-combined map covers a total of 79.6 cM, the female map 93.2 cM and the male map 64.6 cM. Based on comparisons between physical maps and other genetic maps, we estimate that our map covers 70%-80% of the chromosome. The map integrates markers from previous genetic maps and uniquely positions one marker (D22S307). Data from physical mapping on the location of four genetic markers correlates well with our linkage map, and provides information on an additional marker (D22S315). This map will facilitate high resolution mapping of additional polymorphic loci and disease genes on chromosome 22, and act as a reference for building and verifying physical maps.

Chromosome Mapping↗

A study on the short tandem repeat systems HumCD4, HumTH01 and HumFIBRA in population samples from Yemen and Egypt.

The short tandem repeat systems (STRs) HumCD4 (CD4), HumTH01 (TH01) and HumFIBRA (FGA) were amplified by the polymerase chain reaction (PCR) on blood samples from 100 unrelated Yemenians and 100 unrelated Egyptians. PCR products were separated on native horizontal discontinuous gel electrophoresis followed by silver staining. The distribution of observed phenotypes did not deviate from Hardy-Weinberg equilibrium. While significant differences between both Arab populations and an European population from Austria were found at all loci, differences between the Egyptian and the Yemenian samples were found only for CD4. In a number of verified Austrian families (TH01: 426 meioses, CD4: 275 meioses, FGA: 144 meioses) no mutations were found. The observation of a TH01 allele consisting of 4 repeats was confirmed by sequencing. Moreover we report the structure of a TH01 allele 6.3 observed in a Hungarian Caucasian population.

Alleles↗

Population data on the X chromosome short tandem repeat loci DXS10011, DXS101, DXS6789, DXS7132, DXS8377, and DXS9895 in Taiwan.

X chromosome linked short tandem repeat (STR) are powerful auxiliary systems to genomic STR, they are helpful for differentiating if two women have the same father directly, avoiding some of the ambiguity generated from sibship estimation. This report contains the results of population studies on the X chromosome STR DXS10011, DXS101, DXS6789, DXS7132, DXS8377 and DXS9895 carried out in Taiwan. The common alleles of each locus were sequenced and used in a control ladder to type unknown samples. The numbers of unrelated individuals were 273 (female 92 and male 181) for DXS10011 locus, 448 (female 135 and male 313) for DXS101 locus, 447 (female 135 and male 312) for DXS6789 locus, 414 (female 119 and male 295) for DXS7132 locus, 450 (female 135 and male 315) for DXS8377 locus and 413 (female 120 and male 293) for DXS9895 locus. These STR polymorphisms will be a useful marker for parentage testing especially when disputed blood relative is female.

Chromosomes, Human, X↗

Genetic analysis of 18 X-linked short tandem repeat markers in Korean population.

The population genetic data of 18 X-chromosomal short tandem repeat (STR) markers DXS6807, DXS8378, DXS9895, DXS9902, DXS6810, DXS7132, DXS981, DXS6800, DXS9898, DXS6789, DXS101, DXS6797, GATA172D05, GATA165B12, HPRTB, GATA31E08, DXS8377, and DXS7423 were analyzed in samples of unrelated 220 males and 181 females from Korean population. The exact test for genotype distribution of the markers showed no significant deviation from the Hardy-Weinberg equilibrium. Allele frequencies between male and female samples were not significantly different in all examined markers. All examined males and females showed different hemizygotic haplotype and combined genotypes, respectively. Four cases of mutation were found in GATA172D05, GATA31E08, DXS7132, and HPRTB from the analysis of 95 father-child-mother trios. Details of X chromosomal STRs in Koreans would be useful in paternity tests and forensic purposes as well as whole X-chromosomal mapping studies.

Asian People↗

Allele frequencies of 15 short tandem repeats (STRs) in three Egyptian populations of different ethnic groups.

DNA typing of 15 short tandem repeat (STR) loci included in the AmpFlSTR Identifiler PCR amplification kit (Applied Biosystems), was carried out in three Egyptian populations of different ethnic groups: the Berbers from the Siwa oasis (in the North-Western Egyptian desert), the Muslims and the Copts from Adaima (Upper Egypt). A total of 297 individuals were typed. After Bonferroni's correction, no deviations from the Hardy-Weinberg equilibrium were observed for all samples at the 15 STR loci. All loci are highly polymorphic and population differentiation tests showed that 7, 10 and 8 out of 15 loci have significant differences between the Berbers and the Muslim samples, between the Berbers and the Copts, and between the two samples from Adaima, respectively. Comparative analyses between our population data and other geographically related populations gathered from the literature were performed.

DNA Fingerprinting↗

Portuguese population data on the six short tandem repeat loci--CSF1PO, TPOX, THO1, D3S1358, VWA and FGA.

Allele frequencies for six tetrameric short tandem repeat (STR) loci CSF1PO, TPOX, THO1, D3S1358, VWA and FGA were determined in a Caucasian population sample from Portugal. All loci are highly polymorphic and meet Hardy-Weinberg expectations. There is little evidence for association of alleles among the six loci. The three loci D3S1358, VWA and FGA are more polymorphic and, hence, are more informative than the loci CSF1PO, TPOX, and THO1. However, all six loci would be useful for human identification applications. The STR allelic frequency data are similar to other Caucasian data.

Alleles↗

Zimbabwe black population data on the six short tandem repeat loci--CSF1PO, TPOX, THO1, D3S1358, VWA and FGA.

Allele frequencies for six tetrameric short tandem repeat (STR) loci CSF1PO, TPOX, THO1, D3S1358, VWA, and FGA were determined in a Black African sample population from Zimbabwe. All loci are highly polymorphic and meet Hardy-Weinberg expectations. An inter-class correlation test analysis detected only one departure from independence out of 15 pair-wise comparisons of the six loci (i.e., CSF1PO/VWA loci, P = 0.026). The allele frequency data at four of the six STR loci in the Black African sample population are similar to African American data.

Alleles↗

Detection of the two short tandem repeat loci (HumTPO and HumLPL) in Japanese populations using discontinuous polyacrylamide gel electrophoresis.

Two short tandem repeat (STR) systems, HumTPO and HumLPL, were investigated in 218 unrelated Japanese living in Gunma and Fukui Prefectures by means of discontinuous, horizontal polyacrylamide gel electrophoresis and silver staining. Five and six alleles were identified at the HumTPO and HumLPL loci, respectively. No deviations from the Hardy-Weinberg equilibrium or differences in genotype frequency were found between the two Japanese populations in the two systems. Our detection methods offered several advantages including time-saving and safe electrophoretic procedures, and fast and easy silver-staining, in comparison with standard and conventional STR analysis using vertical polyacrylamide gel electrophoresis.

Electrophoresis, Polyacrylamide Gel↗

[Short tandem repeat loci examination after repair of coracoclavicular ligament injury by tissue engineered tendon].

OBJECTIVE: To evaluate the result of clinical application in the repair of coracoclavicular ligament injury by tissue engineered tendon using the technique of short tandem repeat loci examination. METHODS: In september 1999, human embryonic tendon cells and artificial materials were co-cultured in vitro to construct tissue engineered tendon, which repaired coracoclavicular ligament injury. After 6 months of operation, micro-tissue were sampled during the operation of removal of internal fixation, and morphological characteristics were examined by HE staining, DNA of tissues were extracted to examine D3S1754 and Cyar04 gene loci. RESULTS: The shoulder function of the patient was recovered well after operation, and no local or systemic immunological rejection were occurred. The electrophoresis typing showed 13/14 at D3S1754 and 8/9 at Cyar04 in the tissue of tissue engineered tendon, while the autogenous ligament were 13/13 and 8/8 at D3S1754 and Cyar04 loci respectively, which suggested that the tissue engineered tendon was survived in vivo. CONCLUSION: The examination of short tandem repeat loci is a better index to evaluate the survival situation of tissue engineered tissue after transplantation in clinical application.

Acromioclavicular Joint↗

Matrix-assisted laser desorption/ionization for short tandem repeat loci.

Matrix-assisted laser desorption/ionization was used for the detection of four base short tandem repeats (STR) for clinical samples using a time-of-flight mass spectrometer. Since STR plays an important role in genetic disease and human identification, this work indicates that laser desorption mass spectrometry has the potential to achieve rapid DNA typing for both forensic applications and genetic disease diagnosis.

DNA↗

Forensic validation of the short tandem repeat HUMACTBP2 using capillary electrophoresis.

Experiments were performed to evaluate the forensic identification of the short tandem repeat (STR) HUMACTBP2 (human beta-actin-related pseudogene) using automated fluorescence-based capillary electrophoresis. The HUMACTBP2 is a complex tetranucleotide STR locus with more than 32 alleles in the range of 202-323 bp. The reproducibility of genetic typing using a fluorescent labeled allelic ladder was determined by comparison of the calculated fragment size after consecutive (within-day) and nonconsecutive (day to day) injection. The maximum variation in size (window) observed for any allele was 0.23 bp for the within-day and 0.8 bp for the day-to-day precision. Furthermore, it is possible to achieve a 1 bp resolution, the precision of the reproducibility assays being about 99.95%. Sixty blood samples and twenty stains were typed with both automated fluorescent sequencer ABI 373A and ABI 310. Identical genotypes were obtained with both techniques and the ABI 310 seemed to be more sensitive than the ABI 373A. A population sample of 197 unrelated individuals from southwest Switzerland was analyzed and the genotype frequencies observed were similar to those reported by others. Thirty-one alleles and 126 genotypes were found. The observed heterozygosity was 0.934. Mixtures from two different blood samples varying in their ratio were typed and the minor fraction was detectable to about 1:10. The practical usefulness of the HUMACTBP2 is illustrated by analyzing casework samples. This validation study proves the usefulness of the HUMACTBP2 locus in forensics and the detection efficiency using fluorescent capillary electrophoresis.

Actins↗

A study of the short tandem repeat systems HUMVWA and HUMTH01 in an Austrian population sample.

The genotype distributions for the short tandem repeat systems (STRs) HUMVWA and HUMTH01 have been studied in 128 unrelated Caucasians fromêAustria. The allelic distributions were in accordance with Hardy-Weinberg expectations. The heterozygosities were 0.82 and 0.81, whereas the mean exclusion chance was 0.62 and 0.55, respectively. In one person, a VWA-allele consisting of 11 repeats was found.

Austria↗

Short tandem repeat (STR) system HumD21S11: population genetic study on an Italian population.

Allele frequencies of the Short Tandem Repeat locus HumD21S11 were determined analysing 119 unrelated individuals from the area of Milano (Northern Italy). A total of 13 alleles was detected. One allele (< 26) was found which has never been observed in a wider German population sample. The system showed neither significant deviation from Hardy-Weinberg equilibrium nor significant differences with a German population sample.

Gene Frequency↗

Sequence analysis and population data on the 'new' short tandem repeat locus D5S2360.

We have studied the sequence structure and population genetics of a 'new' short tandem repeat polymorphism at locus D5S2360 in German Caucasians. Sequencing at this locus revealed a considerable variation, which is characterized by a tetranucleotide (AGAT)(n) repeat pattern with (GAT), (AGATT), and (AG) repeats dispersed throughout the alleles. These microvariations do not necessarily alter the size of the alleles. They may vary by one or two pairs or they may remain unchanged in size. At locus D5S2360 we observed 33 allelic lengths comprising at least 36 different alleles. Population data revealed a high polymorphism with a heterozygosity rate of approximately 92.5%.

Alleles↗

Short tandem repeat (STR) DNA markers are hypervariable and informative in Cannabis sativa: implications for forensic investigations.

Short tandem repeat (STR) markers are the DNA marker of choice in forensic analysis of human DNA. Here we extend the application of STR markers to Cannabis sativa and demonstrate their potential for forensic investigations. Ninety-three individual cannabis plants, representing drug and fibre accessions of widespread origin were profiled with five STR makers. A total of 79 alleles were detected across the five loci. All but four individuals from a single drug-type accession had a unique multilocus genotype. An analysis of molecular variance (AMOVA) revealed significant genetic variation among accessions, with an average of 25% genetic differentiation. By contrast, only 6% genetic difference was detected between drug and fibre crop accessions and it was not possible to unequivocally assign plants as either drug or fibre type. However, our results suggest that drug strains may typically possess lower genetic diversity than fibre strains, which may ultimately provide a means of genetic delineation. Our findings demonstrate the promise of cannabis STR markers to provide information on: (1) agronomic type, (2) the geographical origin of drug seizures, and (3) evidence of conspiracy in production of clonally propagated drug crops.

Alleles↗

Population genetic studies on the tetrameric short tandem repeat loci D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820 in Egypt.

The short tandem repeat loci (STRs) D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 and a locus allowing for sex-discrimination (amelogenin) can be co-amplified by the polymerase chain reaction using a commercially available kit (AmpFlSTR Profiler plus, Perkin-Elmer Biosystems, San Jose, CA) and subsequently typed using capillary electrophoresis (ABI Prism 310 Genetic analyzer, Perkin Elmer Applied Biosystems, San Jose CA). To establish databases for these loci for an Arab population sample from Egypt, 140 unrelated persons were typed. Analysis of these data revealed that all loci except for VWA were in Hardy-Weinberg equilibrium, that the combined mean paternity exclusion chance (MEC) was 0.999875 and that the combined discriminating power (DP) was 2.635 x 10(-11). The allelic distributions found in the Egyptian sample were significantly different at four loci from those found for an Austrian Caucasian population, at all nine loci from an African-American sample and at six of six loci from a Chinese sample. No evidence of linkage equilibrium between any of the co-amplified loci was found. Our results support that the combination of multiplex PCR and capillary electrophoresis can both save time and yield excellent results for paternity testing and stain analysis.

Alleles↗