Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:2.7.10.2 (focal adhesion kinase)
44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper reports the sequences of novel alleles identified during population databasing studies on the short tandem repeat loci HumvWA and HumFES/FPS. Two HumFES/FPS alleles follow the simple repeat pattern (ATTT)7 and (ATTT)15. Sequence variation corresponding to an A to C transversion occurred in the 5' flanking region in two individuals possessing the designated allele 7. Two HumvWA alleles exhibited compound repeat regions comprising TCTA and TCTG repeat units. Sequence analysis confirmed the putative designation of 11 for a 127 base pair allele. However, a 131 base pair allele, putatively designated as 12, exhibited a more complex sequence. Two different types of repeat unit structures were identified which also exhibited sequence variation in the 3' flanking region.
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PMID:Structural variation of novel alleles at the Hum vWA and Hum FES/FPS short tandem repeat loci. 749 84

The 5 tetranucleotide short tandem repeats, HUMTH01, HUMVWA31/A, HUMF13A1, HUMFES/FPS and HUMLPL were studied using different electrophoretic methods and PCR amplification conditions in order to optimize the typing conditions. A genetic population study in the population of Galicia was carried out and the allele and genotype frequencies are given. Compliance with the Hardy-Weinberg equilibrium was tested using different statistical parameters, with clear advantages resulting in favor of using the exact test (Guo-Thompson method) instead of conventional chi-square methods. Some statistical parameters of forensic interest (PD, CE, h) were also calculated. There were no mutations found in a total of 73 paternal meioses and 101 maternal meioses. Abnormal electrophoretic mobility was found in the AT-rich STR HUMF13A1 under non-denaturing conditions and, therefore, the use of denaturing conditions is absolutely necessary. No "stutter" bands were found, although double peaks in the HUMFES/FPS system were observed in some samples. The advantage of using automated sequencers with fluorescent technology is also reported.
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PMID:The use of the STRs HUMTH01, HUMVWA31/A, HUMF13A1, HUMFES/FPS, HUMLPL in forensic application: validation studies and population data for Galicia (NW Spain). 757 90

The recent technology of amplification of DNA sequences by the polymerase chain reaction (PCR) has already proved to be a very useful tool for the analysis of variable number of tandem repeat (VNTR) loci. Short tandem repeat (STR) loci appear as other promising PCR-based identification systems. In fact, DNA typing based on PCR amplification of STRs is very sensitive and allows to overcome major problems encountered when using the RFLP method, such as typing of very small amounts of DNA, highly degraded DNA or mixtures of DNA from more than one individual. Two STR systems, HUMTH01 (a tetranucleotide repeat (AATG) sequence located on chromosome 11) and HUMFES/FPS (a tetranucleotide repeat (ATTT) sequence located on chromosome 15) were investigated in order to determine allele and genotype frequencies for a French caucasian population sample. HUMTH01 and HUMFES/FPS alleles were amplified by the use of PCR and amplified STR sequences were analyzed on 6% Hydrolink Long Ranger gels and visualized by silver staining. The study was conducted on a sample of unrelated individuals (N approximately 190) randomly selected from the French caucasian population. The genotype distributions met Hardy-Weinberg expectations for both HUMTH01 and HUMFES/FPS STR systems. Furthermore, an additional allele, never reported before was observed at the HUMFES/FPS locus: it migrates as an allele containing 7 repeat units and corresponds to the smallest allele identified for this locus.
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PMID:French Caucasian population data for HUMTH01 and HUMFES/FPS short tandem repeat (STR) systems. 760 91

Patients with cerebellar ataxia often show swing of the upper arms or the elbows in forearm pronation-supination test (FPS test). Eleven healthy volunteers and sixteen patients with cerebellar ataxia were examined. We observed FPS test of the subject with their shoulder and elbow joints being flexed at a right angle respectively in sitting position, and recorded them by VTR. We noticed following four points in FPS movement: 1) velocity and regularity, 2) amplitude, 3) finger posture, 4) state of elbow fixation. We recorded surface EMG of the upper arm-fixing muscles (deltoid, pectoralis major, infraspinatus) and the forearm-moving muscles (biceps brachii, pronator teres). In controls, FPS movements were regular and speedy. The upper arm was so well fixed that the elbow did not swing. Continuous discharges were recorded from upper arm-fixing muscles when the upper arm was lifting. Reciprocal grouping discharges were recorded during FPS movements from upper arm-fixing muscles so that they were suppressing the swing of the elbow. In ataxic patients, FPS movements were dysrhythmic and slow. The elbow swung during FPS test. We observed internal rotation and abduction of the shoulder when forearm pronated, and outer rotation and adduction of the shoulder when forearm supinated. Reciprocal grouping discharges that were reverse of normal ones were recorded from upper arm-fixing muscles so that they were aggravating the swing of the elbow. Synergia is an ability to accomplish the various muscle contractions coordinately when making up a certain action. Asynergia is one of the characteristic features of disturbance of the association of muscle contractions of the upper arm and the forearm. FPS test is easy and useful to detect asynergia of the upper extremity in cerebellar ataxia.
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PMID:[Asynergia in cerebellar ataxia--the significance of impairment of elbow fixation in forearm pronation-supination test]. 761 45

The tetrameric STRs, HUMTH01, HUMVWA31A and HUMFES/FPS, were studied in a population from the Basque Country (northern Spain) for their frequency distribution and applicability to identity and paternity testing. All systems conformed to Hardy-Weinberg equilibrium; pairwise comparisons demonstrated the allelic independence between loci, and furthermore, all systems seemed to be in agreement with expectations from the Stepwise Mutation Model (SMM) of the mutation-drift theory, which indicates the homogeneity of the population and suggests a replication slippage mechanism as a possible model for generating alleles. A comparison with other population groups appeared to indicate that frequencies are well conserved in Caucasians, but differ from other racial groups. The calculated parameters "a priori probability of exclusion" (PEX) and "index of discrimination" (ID), show the informativeness of these loci for the determination of identity and relatedness of individuals.
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PMID:Population study of 3 STR loci in the Basque Country (northern Spain). 763

A quadruplex reaction has been developed which amplifies the short tandem repeat (STR) loci HUM-VWA31/A, HUMTHO1, HUMF13A1 and HUMFES/FPS. Detection of the PCR products employs denaturing polyacrylamide gels coupled with fluorescent-based technology. This system has been evaluated for use in routine forensic casework and has been shown to be both robust and reproducible. The quadruplex reaction is as sensitive as the commercially available HLA DQ alpha Amplitype typing system and can be used on both degraded and aged material. The problems of environmental contamination have been shown to be limited provided strict procedural practices are followed-i.e. physical separation of sample extraction and amplified products; the use of dedicated equipment such as pipettes; the separation of amplification preparation area. The ability of the system to detect mixtures and the successful analysis of case stains has shown that this system is well suited as a tool for forensic investigation.
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PMID:The validation of short tandem repeat (STR) loci for use in forensic casework. 781 23

To further characterize inherited heterozygous protein S (PS) deficiencies, we studied 63 patients belonging to 33 families. Diagnosis of PS deficiency was based on protein S activity (PS Act) and/or free PS antigen (FPS Ag) levels below the lower limit of the normal range in patients not on oral anticoagulation. Depending on the level of total PS antigen (TPS Ag), two subpopulations could be distinguished: in the first one (25 patients belonging to 11 families) level of TPS Ag was reduced whereas in the second one (38 patients belonging to 22 families), TPS Ag was normal. In none of the families studied the two types of PS deficiency coexisted suggesting that they are different entities. In the 63 patients, thromboembolic events occurred in 57% of cases and were recurrent in 36.5% of patients. Age at the time of the first thrombosis ranged from 14 to 74 years, and was below 40 years in 69% of symptomatic cases. Thrombotic events were spontaneous in 64% of cases, and were associated with other risk factors in 36%. There was no apparent relationship between clinical status, symptomatic or asymptomatic, and the type or degree of the PS deficiency. Long-term anticoagulation prevented the recurrence of thrombosis in every case but one, and led to a decrease in circulating levels of C4b-binding protein suggesting the existence of a regulation between C4b-BP and PS concentrations. Together with previous reports, these findings underline the clinical and biological heterogeneity of inherited protein S deficiency.
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PMID:Inherited protein S deficiency: clinical manifestations and laboratory findings in 63 patients. 786 77

The allele frequency distributions of four VNTR loci amplified by PCR have been studied in a population of 205 individuals from Spain. The loci analysed are D1S80 and three STRs: HUMTH01, HUMFES/FPS and HUMACTBF2 (SE33). The former was visualized in Metaphor agarose gels, and the STRs in sequencing polyacrylamide gels under denaturing conditions which could separate alleles with differences of a single base. This is of particular importance in the HUMTH01 locus, a tetrameric STR in which two alleles (9.3 and 10) were detected differing in a single base. Furthermore, HUMACTBP2 has at least 30 alleles, some of which may vary by as little as one base. At this locus a variation in the allele mobility was observed, depending on the electrophoretic conditions. For this reason, there should be careful consideration before this marker is accepted and validated as a common interlaboratory system. This paper does not include any comparison of the frequencies obtained for this locus with other recent studies. For the rest of the loci, the frequencies found have been compared with other published population studies; they show a degree of difference, particularly in the D1S80 locus. Finally, the systems were tested for Hardy-Weinberg equilibrium, and some statistical parameters of forensic interest were calculated.
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PMID:Allele frequency distribution of four PCR-amplified loci in the Spanish population. 786 10

Many natural populations fluctuate widely in population size. This is predicted to reduce effective population size, genetic variation, and reproductive fitness, and to increase inbreeding. The effects of fluctuating population size were examined in small populations of Drosophila melanogaster of the same average size, but maintained using either fluctuating (FPS) or equal (EPS) population sizes. FPS lines were maintained using seven pairs and one pair in alternate generations, and EPS lines with four pairs per generation. Ten replicates of each treatment were maintained. After eight generations, FPS had a higher inbreeding coefficient than EPS (0.60 vs. 0.38), a lower average allozyme heterozygosity (0.068 vs. 0.131), and a much lower relative fitness (0.03 vs. 0.25). Estimates of effective population sizes for FPS and EPS were 3.8 and 7.9 from pedigree inbreeding, and 4.9 vs. 7.1 from changes in average heterozygosities, as compared to theoretical expectations of 3.3 vs. 8.0. Results were generally in accordance with theoretical predictions. Management strategies for populations of rare and endangered species should aim to minimize population fluctuations over generations.
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PMID:Modelling problems in conservation genetics using Drosophila: consequences of fluctuating population sizes. 792 63

We have examined the performance and reproducibility of an automated DNA profiling system which is based on the multiplex amplification of 4 tetrameric STR loci-HUMVWFA31/A. HUMTH01, HUMF13A1 and HUMFES/FPS. The system was able to type 100 pg of purified, undegraded, genomic DNA. At lower concentrations of DNA (below 100 pg), allelec drop-out occurred due to stochastic differences in allele copy number. Minor variation of individual PCR reagent concentrations or cycling temperatures did not result in a significant effect on the efficiency of amplification of any of the 4 loci in the quadruplex system. More substantial variation of reagent concentrations or cycling temperatures outside the optimum range of the system resulted in a reduction or complete loss of signal for one or more loci. This was also observed at high ionic strength or extreme pH. However, under all reagent concentrations and conditions studied, no artefact bands that could potentially result in the mistyping of a sample were apparent within the read region (130-240 bases) of the gel. Evaluation of both native and denaturing polyacrylamide gels revealed that, although native gels displayed faster run times, the sizing precision of such gels for certain STR loci was lower than that of denaturing gels. Also, artefact bands may be present within the read region of native gels. In conclusion the quadruplex amplification system described, coupled with automated fluorescence-based detection on denaturing polyacrylamide gels, appeared to be a robust and reliable system for individual identification.
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PMID:Evaluation of an automated DNA profiling system employing multiplex amplification of four tetrameric STR loci. 794 37


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