Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.10.2 (focal adhesion kinase)
 44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Population data studies were carried out on a Caucasian population from North-East Spain (n = 129-292 individuals) for 13 PCR-based polymorphic DNA loci: six short tandem repeat loci (HumTH01, HumTPOX, HumCSF1PO, HumF13A01, HumFES/FPS, HumvWFA31), the six PM loci (HLA-DQ alpha, LDLR, GYPA, HBGG, D7S8, GC) and one variable number tandem repeat locus (D1S80). The genotypes distributions were in accordance with Hardy-Weinberg expectations. The combined use of the 13 polymorphic systems provides a high power of discrimination and power of exclusion for use in forensic casework and paternity testing.
 ...
PMID:Allele frequency distributions of 13 PCR-based systems in a population from North-East Spain. 927 49

The association between genetic instability in repetitive DNA domains and cancer has been reported in different types of malignancies. In this work we perform a comparative study of 29 gastric tumors with paired normal tissue using seven tetra-(FES/FPS, VWA31/A, HTPO, TH01, MBPB) and pentanucleotide (CD4, TP53) STR polymorphic markers regarding loss of heterozygosity and replication error status. Furthermore, we compare the gene frequencies obtained in normal tissue from patients with those of a normal control population from the same area, looking for allele associations between any of these polymorphic loci and gastric cancer risk. The results have shown that FES/FPS and TP53 present the higher rates of somatic instability. The observed results for TP53 are in accordance with those previously reported in gastric carcinogenesis, while instability of FES/FPS is for the first time reported in this tumor type. Our data suggest that different loci show different rates of instability and/or loss of heterozygosity and do not seem to consist of a result of an RER+ phenotype affecting several genomic repetitive domains. Furthermore, the instability in markers TH01, MBPB, TP53, and FES was generally detected in genotypes involving alleles with a high number of repeats. Comparing gene frequencies in patients and normal controls, no significant differences were found, although longer alleles are consistently more frequent in patients for the markers MBPB, TH01, and CD4.
 ...
PMID:Tetra- and pentanucleotide short tandem repeat instability in gastric cancer. 937 35

Allele frequencies for the STR systems FES/FPS and F13B were determined from 203 unrelated individuals from north-eastern Poland. After denaturing PAGE, 7 and 6 alleles were detected for FES/FPS and F13B, respectively. No deviations from Hardy-Weinberg equilibrium were observed.
 ...
PMID:The STR systems FES/FPS and F13B in a Polish population. 938 17

Human identification of biological specimens has undergone immense change since the development of PCR typing systems for forensic casework. In contrast to RFLP and VNTRs, STRs are the method of choice when the investigated genomic DNA is present in low quantity or in degraded shape. In the current study, the X-Y homologous gene Amelogenin has been added to a widely used multiplex PCR amplification system consisting of four tetrameric STR loci (Quadruplex-HumTH01, HumvWFA31/A, HumFES/FPS, and HumF13A1). The modified Quadruplex was used to type 382 unrelated Caucasians from Western Austria. The population data meet Hardy-Weinberg and linkage equilibrium expectations, and do not show significant deviations from either US, German, and Turkish Caucasian databases. In an investigation of 382 meioses, two mutations were revealed at the HumvWFA31/A locus. Consequently, the data in this paper provide the conditions for adding Amelogenin to the Quadruplex, and suggest that when doing paternity testing, the mutation rate for the HumvWFA31/A locus must be considered.
 ...
PMID:Austrian Caucasian population data for the quadruplex plus amelogenin: refined mutation rate for HumvWFA31/A. 939 58

A rapid typing method for STR analysis from bloodstains was devised. DNA from three-year-old bloodstains of six individuals was extracted with a cationic detergent in a newly-released kit. Amounts of DNA extracted by the kit were 16.2 +/- 1.8 ng from 10 microliters of fresh blood samples. DNA was also extracted from bloodstains of three months and three years left at room temperature, and amounts of extracted DNA were estimated at 2.2 +/- 1.0 ng and 0.1 +/- 0.1 ng, respectively. The PCR mixture supplied with the kit, plus three sets of fluorescently labeled primers, were directly added to the tube used for DNA extraction. The amplified products were then analyzed by capillary electrophoresis, and the obtained data were automatically sized and typed using computer software. Three genotypes of all bloodstains except one sample at a single locus were determined correctly as those of freshly collected blood from the same individuals although some stains contained no more than 0.1 ng. Using this typing system, we were able to type three STR loci, HUMTH01, HUMF13A1 and HUMFES/FPS, from a single bloodstain within five hours. This typing is particularly useful for forensic practice.
 ...
PMID:A rapid typing system at three STR loci from bloodstains using a simple DNA extraction kit and capillary electrophoresis. 943 68

Nine populations (Germans, Turks, Moroccans, Ovambos, Ugandans, Chinese, Japanese, Papuans, and Australian Aborigines) were investigated using six microsatellite systems (HumCD4, Hum F13B, HumFES/FPS, HumTH01, HumVWA, and D21S11), so-called STRs (short tandem repeats). Allele frequency data and sequencing results were used to compare the population genetic diversity among these populations. The genetic differences varied depending on the STR applied. According to the systems investigated, we defined three categories of STR microvariation: LOMs (low microvariation systems), INMs (intermediate microvariation systems), and HIMs (high microvariation systems). LOMs (STRs: CD4, FES, F13B, TH01) are characterised by a number of repeats between 5-15 and a stable repeat sequence. INMs and HIMs each showed an increasing number of repeats and additional sequence variation in the repeat motifs. The rate of new mutations was associated with the extent of microvariation. The reconstruction of phylogenetic trees led to a clustering in an early split of the African populations followed by further branching of the Asian/Melanesian and the Caucasian groups.
 ...
PMID:Population genetic diversity in relation to microsatellite heterogeneity. 948 77

Polymerase chain reaction (PCR) amplified alleles need to be isolated and purified before carrying out additional analysis to confirm sequence, number of repeats and microvariants within a short tandem repeat (STR) locus. Also, PCR amplification of tetranucleotide repeat loci, used in DNA typing assays, often result in heteroduplex formation, adding to the complexity of analysis. Sequencing reactions require single specific target DNA for reliable sequencing analysis. Alkylated poly(styrene-divinylbenzene) columns at elevated temperature and gradient elution conditions increase the efficiency of separation to allow for the purification of PCR products. Using the separation technique of ion-pairing reverse-phase (IPRP) high performance liquid chromatography (HPLC), molecular biologists can separate and purify DNA fragments without alteration to the double-stranded DNA sequencing properties. In this study, the IP-RP chromatography technique has been demonstrated by separation of alleles of the short tandem repeat loci of TH01, vWA31, F13A01 and FES/ FPS. Alleles differing in size range of 12 to 4 base pairs were separated by IPRP/HPLC and individual alleles were peak-captured, then cycle-sequenced. These HPLC fractions required no additional steps prior to cycle sequencing. Capillary electrophoresis (CE) was used to sequence the alleles. Furthermore, CE offers advantages over traditional slab methods via automation and higher applied voltages. Interestingly, unlike traditional gel electrophoresis, samples were introduced into the sieving matrix by electrokinetic injection, which allows for multiple injections from a single sample, a key feature for method development. Applied voltage was 320 V per centimeter using a nonderivatized fused silica capillary with an interior diameter of 50 microm and a total length of 47 centimeters. The total analysis time including capillary filling and pre-electrophoresis was less than 30 min for a 220-bp fragment. A sequencing rate of 530 bp/h was achieved using these conditions. By combining the techniques of HPLC separation and CE sequencing, the results confirmed the sequence and number of nucleotide repeats for each STR loci. An average sequencing efficiency of 97% was achieved. Additionally, this method defined the absence of a 9.3 microvariant for a TH01 heterozygous individual previously typed as a 9, 9.3/10 using slab gel electrophoresis. The techniques described can be applied to other DNA purification and isolation problems.
 ...
PMID:Sequencing using capillary electrophoresis of short tandem repeat alleles separated and purified by high performance liquid chromatography. 951 71

In the treatment of patients with pain, measures related to (pain) behaviour are of major importance. Ambulatory activity monitoring can be used to obtain insight into actual behaviour. This study was designed to validate the Activity Monitor (AM), an instrument based on long-term ambulatory monitoring of accelerometer signals, to assess several physical activities during normal daily life. Ten failed back surgery (FBS) patients performed a number of functional activities in and around their own houses. During the measurements, continuous ambulatory registrations of accelerometer signals were made, based on four body-mounted accelerometers (one on each upper leg, two on the trunk). Video recordings made simultaneously with the measurements were used as a reference. The continuous output of the AM (postures, transitions, dynamic activities) was compared with visual analysis of the videotapes. The overall results showed an agreement between AM output and video analysis of 87% (inter subject range: 83-88%). The maximal error in the determination of the duration of activities was 0.3%. The overall number of dynamic periods was determined well (AM: 359; video: 368), while the number of transitions was slightly overestimated (AM: 228; video: 205). The results when using the three-sensor version of the AM were somewhat less accurate (overall agreement from 87% to 82%). The AM appeared to be a valid instrument to quantify aspects of behaviour of FPS patients, such as duration of activities and number of transitions. This new technique of ambulatory measurement of mobility activities seems to be a relevant and promising extension of the techniques currently used in the evaluation of pain treatment.
 ...
PMID:Ambulatory accelerometry to quantify motor behaviour in patients after failed back surgery: a validation study. 952 Feb 29

Replication error (RER) is defined as mutation events in repetitive DNA segments. To investigate further the RER phenomenon and reveal any differences in mutation outcome between different short tandem repeat (STR) loci, we have investigated the somatic mutation rate and the size distribution of new tumour alleles in four tetranucleotide STRs in a large material of unselected colorectal adenocarcinomas. DNA was extracted from the blood and carcinomas of 217 patients. All blood/tumour pairs were analysed using the STRs HUMTHO1, HUMFES/FPS, HUMVWA31/A and HUMF13A1. Mutations are detected at all four loci. There are substantial differences in mutation rate and mutation direction (i.e. expansion versus contraction) between different STR loci. In all four STRs, the majority of events represent gain or loss of a single repeat. Almost all new tumour alleles correspond to known alleles in a population database, indicating that these are also composed of integers of the four base pair repeat. There is no statistically significant size bias in the mutating alleles as compared to the allelic distribution in the population database.
 ...
PMID:Variation in mutation rate and direction between tetranucleotide STR loci in human colorectal carcinomas. 965 73

The short tandem repeat systems (STRs) HumvWA, HumFXIIIB, and HumFES/FPS were amplified in a triplex polymerase chain reaction (PCR) on blood samples from 100 unrelated Yemenians and 100 unrelated Egyptians. The samples were analyzed by native horizontal discontinual electrophoresis. No deviations from Hardy-Weinberg equilibrium were detected. The mean exclusion chances for Egyptians and Yemenians were 0.634 and 0.591 (vWA), 0.530 and 0.531 (FXIIIB), and 0.573 and 0.583 (FES); the discriminating powers were 0.937 and 0.924 (vWA), 0.900 and 0.899 (FXIIIB), and 0.918 and 0.921 (FES); and the observed heterozygosity rates were 0.84 and 0.72 (vWA), 0.73 and 0.83 (FXIIIB), and 0.81 and 0.80 (FES). No significant differences were found between the two Arab populations, but the differences between both Arab populations and a European population for HumFES and FXIIIB and between the Yemenian sample and a European sample for vWA were significant. No evidence of linkage disequilibrium between any of the three STRs tested was found.
 ...
PMID:Genetic variation at the short tandem repeat loci HumvWA, HumFXIIIB, and HumFES/FPS in the Egyptian and Yemenian populations. 967 May 10


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>