Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The HLA DQ alpha amplification and typing kit has been designed to be used by the forensic community for purposes of identity testing. The introduction of any new DNA marker in forensic identity testing requires the establishment of a population database for the relevant population(s). To this end allele and genotype frequencies for the HLA DQ alpha locus were determined in a Dutch Caucasian population sample and compared with 7 other population genetic studies. In our population sample the HLA DQ alpha genotype frequencies did not deviate from Hardy-Weinberg expectations and for this locus the power of discrimination is 0.94. A test for homogeneity of the HLA DQ alpha population data based on the allele frequency counts for 8 Caucasian population samples was performed and significant differences were found (P = 0.007). The differences in the frequency of the HLA DQ alpha 2 and 3 alleles are the major cause of this deviation. No deviation from population homogeneity was observed when we compared the genotype frequency distributions among the 8 Caucasian population samples. Combined with the extensive validation studies from Comey and Budowle and Helmuth et al. this population genetic study will allow HLA DQ alpha typing to be used in forensic identity testing in the Netherlands.
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PMID:Population data of the HLA DQ alpha locus in Dutch Caucasians. Comparison with other population studies. 843 3

Prior to the introduction of any DNA marker as a tool for person identification and paternity test in certain ethnic groups, a population genetic database should be constructed. Using multiplex primers in single tube polymerase chain amplification, 5 loci of unrelated genes in the PM Amplitype kit (Perkin Elmer) were studied in two Thai population groups: 228 DNA samples were extracted from blood collected at the Borai rural area in Trat province; another 123 DNA samples were collected at the outpatient clinic, Department of Forensic Medicine, King Chulalongkorn Memorial Hospital, Bangkok. Analysis of alleles and genotypes was performed after reversed dot blot hybridization of PCR products to allelic sequence specific probes immobilized on the membrane strip followed by nonradioisotopic detection according to the manufacturer's protocol. Population genetic statistic parameters including discrimination power (DP), the probability of matching (PM), power of exclusion for trio (PE trio) and typical paternity index (PI typical) were computed. Both Thai population groups showed no significant deviation from the Hardy Weinberg Expectation (HWE). The combined DP of all 5 loci in the PM Amplitype markers was 0.993636 for rural Thais and 0.994409 for Thais from Bangkok. The combined PM for rural Thais and those living in Bangkok was 0.006364 and 0.005591, respectively. The combined PE trio was 0.696825 and 0.698875 in both Thai population groups and the combined PI typical values were < 1.0. In conclusion, person identification using PM Amplitype DNA markers was efficient and satisfactory within certain limits. Hence, the application of PM Amplitype DNA markers for paternity tests should be cautiously considered and applied in combination with other parameters.
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PMID:Population genetic data on loci LDLR, GYPA, HBGG, D7S8 and GC in the Bangkok population compared with rural Thais from Trat province. 1051 86

Atopic dermatitis (AD) is a chronic inflammatory skin disease frequently associated with an increased serum IgE level. T helper cells are thought to play an important role in the pathogenesis of AD. It is commonly believed that allergens activate Th2 cells, and it is likely that the cytokines produced by Th2 cells are crucial factors in the induction and maintenance of the disease. IL-13 is one of the cytokines that are produced by Th2 lymphocytes and, like IL-4, it can induce the production of IgE. In order to evaluate its role in the pathogenesis of AD, IL-13 mRNA expression was studied in peripheral blood of patients with different degrees of AD and compared with healthy subjects. Also, we correlated its level of expression with the level of serum IgE and with the severity of the disease. EDTA blood was obtained from 25 patients (divided into three groups ranged from mild to severe AD) and 12 normal subjects as a control group. We examined the blood sample for IL-13 mRNA expression using RNA extraction technique, RT-PCR, PCR amplification using primers specific for IL-13 and beta- actin (as internal control) this is followed by visualization of the expressed bands using gel electrophoresis and DNA marker. Serum IgE level was detected using an ELISA kit. Our results revealed that, IL-13 mRNA is significantly expressed in patients with AD as compared to normal control (P<0.001). IL-13 mRNA shows higher level of expression in severe AD group in comparison with both moderate and mild groups (P = 0.05). Serum levels of IgE showed highly significant increase in patients with AD as compared with the control group (p=0.019), its level is significantly higher in severe AD group versus moderate and mild AD groups (P=0.009 and 0.022, respectively). There is a highly significant positive correlation between serum levels of IgE and the levels of IL-13 mRNA expression in all AD groups (P=0.001). In conclusion, the high level of IL-18 mRNA expression in AD, and its correlation with serum level of IgE and with severity of disease indicates that IL-13 is involved in the pathogenesis of the disease and is an important in vivo IgE inducer.
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PMID:IL-13 gene expression in patients with atopic dermatitis: relation to IgE level and to disease severity. 1673 30

The widely used Achyranthis Bidentatae Radix (Niu Xi) in Chinese medicine preparation is easily misused and confused with Cyathulae Radix (Chuan Niu Xi). Taiwan authority has ruled that Achyranthis Bidentatae Radix and Cyathulae Radix should be individually entered in the given preparations. In this study, with the internal transcribed spacer (ITS) as a DNA marker, nested PCR and DNA sequencing were used to distinguish the two herbs in preparations. Authentic Achyranthis Bidentatae Radix and Cyathulae Radix were collected from the original country, mainland China, and twenty two samples of Chinese medicine preparations labeled with Niu Xi as the ingredient were purchased locally. The total DNA of all samples were extracted by organic solution and purified using a kit. For a standard, ITS regions of authentic Achyranthis Bidentatae Radix and Cyathulae Radix were amplified with PCR and analyzed by an auto-sequencer. The ITS regions of preparation samples of DNA were amplified by nested PCR and the data of sequences received from an auto-sequencer. We compared the ITS sequences of preparation samples with the sequences of a standard and Genbank database to check which Achyranthis Bidentatae Radix or Cyathulae Radix is in the preparation samples. The results showed that only one sample contained Achyranthis Bidentatae Radix and the others contained Cyathulae Radix. The Cyathulae Radix components in four preparation samples do not fit into Taiwan authority rules. And our method can be applied for the differentiation of Achyranthis Bidentatae Radix and Cyathulae Radix in Chinese medicine preparations.
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PMID:Discriminating between Achyranthis Bidentatae Radix and Cyathulae Radix in Chinese medicine preparations by nested PCR and DNA sequencing methods. 1789 33

The occurrence of Mediterranean fever with periods of increase and decrease has been recorded in the Crimean peninsula. The city of Sevastopol and its vicinity are known endemic areas for this disease. Some of the most active agents in the spread of this rickettsiosis are feral and abandoned dogs. The aim of this study was to test ticks parasitizing dogs in Sevastopol for the presence of Rickettsia using molecular methods. The testing of ticks was carried out using real-time PCR and the 'Real Best DNA Rickettsia species' kit (AO 'Vector-Best') followed by sequence identification of the rickettsial DNA detected. The DNA marker for Rickettsia species (a conservative area of citrate synthase gene, gltA) was detected in 16 of 84 (19.1%) samples of Rhipicephalus sanguineus ticks tested. Larger fragments of gltA, ompA and sca4 were amplified and sequenced for 10 of 16 PCR-positive samples. Rickettsia DNA amplified from eight of the samples matched the sequence of Rickettsia conorii conorii Malish, the causative agent of Mediterranean fever. The sequences of Rickettsia DNA from two other ticks had the closest match to homologous fragments of Rickettsia massiliae, a pathogenic spotted fever rickettsia that was identified in the Crimean Peninsula for the first time as part of this study. The detection of two pathogenic species of Rickettsia in the studied ticks suggests the potential for two rickettsial diseases in the region and warrants further epidemiological and clinical studies.
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PMID:The role of Rhipicephalus sanguineus ticks parasitizing dogs in the spread of tick-borne rickettsial pathogens in the city of Sevastopol. 3257 90

Microhaplotypes are the subject of significant interest in the forensics community as a promising multi-purpose forensic DNA marker for human identification. Microhaplotype markers are composed of multiple SNPs in close proximity, such that a single NGS read can simultaneously genotype the individual SNPs and phase them in aggregate to determine the associated donor haplotype. Abundant throughout the human genome, numerous recent studies have sought to discover and rank microhaplotype markers according to allelic diversity within and among populations. Microhaplotypes provide an appealing alternative to STR markers for human identification and mixture deconvolution, but can also be optimized for ancestry inference or combined with phenotype SNPs for prediction of externally visible characteristics in a multiplex NGS assay. Designing and evaluating panels of microhaplotypes is complicated by the lack of a convenient database of all published data, as well as the lack of population allele frequency data spanning disparate marker collections. We present MicroHapDB, a comprehensive database of published microhaplotype marker and frequency data, as a tool to advance the development of microhaplotype-based human forensics capabilities. We also present population allele frequencies derived from 26 global population samples for all microhaplotype markers published to date, facilitating the design and interpretation of custom multi-source panels. We submit MicroHapDB as a resource for community members engaged in marker discovery, population studies, assay development, and panel and kit design.
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PMID:MicroHapDB: A Portable and Extensible Database of All Published Microhaplotype Marker and Frequency Data. 3284 92