Aim
The cell cycle checkpoint kinase 2 (CHK2) protein participates in the DNA damage response in many cell types. Germline mutations in CHK2 (1100delC, IVS2 + 1G>A and I157T) have been associated with a range of cancer types. This study aimed to investigate whether CHK2 1100delC, IVS2 + 1G>A and I157T mutations play an important role in the development of hepatocellular carcinoma (HCC) in a Turkish population.Methods
A total of 165 hepatocellular cancer cases and 446 cancer-free controls were genotyped for CHK2 mutations by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele specific-polymerase chain reaction (AS-PCR) methods.Results
We did not find CHK2 1100delC, IVS2 + 1G>A and I157T mutations in any of 611 Turkish subjects.Conclusion
Our results demonstrate for the first time that CHK2 1100delC, IVS2 + 1G>A and I157T mutations have not been a genetic susceptibility factor for HCC in the Turkish population. Overall, our data suggests that genotyping of CHK2 mutations in clinical settings in the Turkish population should not be recommended. Independent studies are needed to validate our findings in a larger series, as well as in patients of different ethnic origins. 相似文献Background
The ~17 Gb hexaploid bread wheat genome is a high priority and a major technical challenge for genomic studies. In particular, the D sub-genome is relatively lacking in genetic diversity, making it both difficult to map genetically, and a target for introgression of agriculturally useful traits. Elucidating its sequence and structure will therefore facilitate wheat breeding and crop improvement.Results
We generated shotgun sequences from each arm of flow-sorted Triticum aestivum chromosome 5D using 454 FLX Titanium technology, giving 1.34× and 1.61× coverage of the short (5DS) and long (5DL) arms of the chromosome respectively. By a combination of sequence similarity and assembly-based methods, ~74% of the sequence reads were classified as repetitive elements, and coding sequence models of 1314 (5DS) and 2975 (5DL) genes were generated. The order of conserved genes in syntenic regions of previously sequenced grass genomes were integrated with physical and genetic map positions of 518 wheat markers to establish a virtual gene order for chromosome 5D.Conclusions
The virtual gene order revealed a large-scale chromosomal rearrangement in the peri-centromeric region of 5DL, and a concentration of non-syntenic genes in the telomeric region of 5DS. Although our data support the large-scale conservation of Triticeae chromosome structure, they also suggest that some regions are evolving rapidly through frequent gene duplications and translocations.Sequence accessions
EBI European Nucleotide Archive, Study no. ERP002330Electronic supplementary material
The online version of this article (doi:10.1186/1471-2164-15-1080) contains supplementary material, which is available to authorized users. 相似文献In Turkey, all heavy-vehicle driver’s license applicants older than 45 years and with body mass index (BMI) >25 kg/m2 are required to have polysomnography (PSG). However, this law is usually overlooked in practice due to the large number of applications. We aimed to assess the usefulness of four standardized questionnaires: Berlin, STOP, STOP-BANG and OSA50, in identifying the high-risk bus drivers for obstructive sleep apnea (OSA). Ninety highway bus drivers underwent polysomnography and completed four questionnaires. They also underwent otolaryngologic evaluation and blood testing for probable co-existing conditions such as diabetes and hypothyroidism. Neck circumference, BMI, waist circumference, prevalence of OSA and metabolic syndrome, oxygen desaturation index and duration of sleep associated with less than 90% saturation were significantly higher and mean oxygen saturation was significantly lower in drivers >45 years old than drivers <45 years old. STOP-BANG questionnaire had the highest sensitivity (87%) and the highest negative predictive value (NPV) (76%) in identifying high-risk for OSA. A cut off of 45 years old is suitable in screening highway bus drivers for OSA. Among the four questionnaires, STOP-BANG questionnaire had the highest sensitivity and negative predictive value (NPV) in identifying high risk patients for OSA in highway bus drivers and can be safely used as a screening test in this group.
相似文献