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)

A maximum of 6 STR systems (TH01, VWA, ACTBP2, FES, F13B, D21S11) was investigated in 7 human populations (Germans, Turks, Moroccans, Japanese, Chinese, Papuans, Ovambos). In each population no deviations from Hardy-Weinberg equilibrium were observed. Out of each population the phenotypes of 50 individuals (comprising 3 to 6 STRs) were randomly selected. Based on the phenotype frequencies interpopulation comparisons were carried out using the frequencies of each other population. Within major ethnic groups only minor differences in phenotype frequencies were found. Between major ethnic groups differences of up to several orders of magnitude could be observed. The most discriminative STRs for interpopulation comparisons were TH01, FES and F13B.
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PMID:Phenotype differences of STRs in 7 human populations. 757 96

The allele distribution of two STRs has been investigated in two populations, i.e. Turks (n = 203/200) and Germans (n = 414/402). The Turkish population showed 11 alleles in HumFES/FPS and 6 alleles in HumF13B while the German population had 9 (FES) and 8 (F13B) alleles respectively. Although the frequency profiles looked quite similar in both populations, there exist significant differences mainly due to alleles 8 and 10 (F13B) and allele 12 (FES). Four variant alleles have been sequenced and are described. Investigation of 368 (FES)/372 (F13B) meioses revealed no new mutations.
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PMID:HumFES/FPS and HumF13B: Turkish and German population data. 854 66

The short tandem repeat system FXIIIB was amplified by the polymerase chain reaction (PCR) on blood samples from 201 unrelated Austrians and analyzed by horizontal, non-denaturing polyacrylamide gel electrophoresis. The mean exclusion chance was 0.496, the discriminating power 0.883 and the heterozygosity rate 78.61%. In 50 families (100 meioses) no mutations were found. Sufficient amplification could be achieved with as little as 80 pg of high molecular weight cell line DNA, which could be reduced to 60 pg by using 32 instead of 30 cycles. By reamplifying 1 microliter for another 15 cycles, the threshold could be reduced to less than 20 pg. Nevertheless this sensitivity was only possible with cell line DNA, since reamplification of simulated stains proved to be problematical due to artifacts. In a degradation experiment. DNA extracted from bloodstains stored for up to 26 days in a moist chamber and DNA boiled for up to 18 min could be amplified. A quadruplex PCR with VWA, FES and amelogenin is proposed.
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PMID:Validation of the STR system FXIIIB for forensic purposes in an Austrian population sample. 878 92

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.
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PMID:The STR systems FES/FPS and F13B in a Polish population. 938 17

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.
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PMID:Population genetic diversity in relation to microsatellite heterogeneity. 948 77

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.
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PMID:Genetic variation at the short tandem repeat loci HumvWA, HumFXIIIB, and HumFES/FPS in the Egyptian and Yemenian populations. 967 May 10

Allele frequencies for the eight STR loci Hum-CSF1P0, F13A01, F13B, FES/FPS, LPL, TH01, TPOX and VWA were investigated in Japanese and Chinese populations. No significant deviations from Hardy-Weinberg equilibrium could be found for all loci. In the Japanese population VWA, CSF1PO, TH01, FES/FPS and TPOX were found to be useful for forensic applications and in the Chinese population, VWA, CSF1PO, TH01 and TPOX were found to be useful. Allele distributions were similar between both populations except for FES/FPS.
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PMID:Allele frequencies of eight STRs in Japanese and Chinese. 1055 Jun 4

Five short tandem repeat (STR) systems of TH01, vWA, LPL, F13B and FES/FPS were investigated in five ethnic groups living in China (Tujia, Miao, Bai, Chaoxian and Han). All five loci did not deviate from the Hardy-Weinberg equilibrium (P>0.05). At the five loci of each ethnic group, the observed heterozygosity, the mean exclusion chance (MEC), and the power of discrimination (PD) ranged from 0.42 to 0.86, from 0.20 to 0.66 and from 0.61 to 0.95, respectively. For the five ethnic groups, the combined MEC and combined PD were >0. 9360 and >0.9998, respectively, suggesting that combinations of these five systems are feasible for DNA typing in forensic investigations such as personal identification or paternity testing. Furthermore, the allelic frequencies at the five loci suggested that these five ethnic groups were distinctly different communities. Judging from the phylogenetic tree constructed based on the genetic distance among the five ethnic groups, Han, Chaoxian and Tujia were involved in an identical cluster, and Miao and Bai in another. These findings indicate that each of the five groups examined is not only a distinct community, but also has a relationship with each of the others.
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PMID:Genetic variation and relationships at five STR loci in five distinct ethnic groups in China. 1094 Jun 3

Human beings and non human primates show similarities in the non coding DNA range too, but up to now there are only a few data. This paper presents first results of a study dealing with a larger spectrum of species and individuals, considering the genetic marker HLA-DQA1, LDLR, GYPA, HBGG, D7S8, GC (partionally coding) and VWA, FES, F13B, TH01, CD4, FGA (not coding). The results show that not only the apes can be typed but also Macaca sylvanus as a member of the Cercopithecoidea. In contrast to earlier publications there is an unexpected larger similarity between the allele ranges of the apes studied and those of human beings.
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PMID:[DNA PCR typing of non-human primates]. 1159 Oct 51

A renewed and new population study of fourteen short tandem repeat loci (TH01, TPOX, CSF1P0, vWA, FES/FPS, F13A01, D13S317, D7S820, D16S539, LPL, F13B, CD4, D5S818 and D8S1179) were performed in a sample of 296-531 unrelated individuals from Serbia and Montenegro. Population data were compared to previously published data from Vojvodina province and neighboring Croatia.
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PMID:Population data on 14 STR loci from population of Serbia and Montenegro (new and renewed data). 1593 69


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