Genetic testing最新文献

{"title":"Chromosome 7.","authors":"F. Gilbert","doi":"10.1159/000131938","DOIUrl":"https://doi.org/10.1159/000131938","url":null,"abstract":"7q11.23 duplication syndrome, a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities, results from an extra copy of a region on the long (q) arm of chromosome 7. This region is called the WilliamsBeuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome (described below), also known as Williams-Beuren syndrome. The region, which is 1.5 to 1.8 million DNA base pairs (Mb) in length, includes 26 to 28 genes.","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"6 2 1","pages":"141-61"},"PeriodicalIF":0.0,"publicationDate":"2020-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000131938","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46356407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic variation, phenotypic stability, and repeatability of drought response in European larch throughout 50 years in a common garden experiment.","authors":"Jan-Peter George, Michael Grabner, Sandra Karanitsch-Ackerl, Konrad Mayer, Lambert Weißenbacher, Silvio Schueler, Annikki Mäkelä","doi":"10.1093/treephys/tpw085","DOIUrl":"10.1093/treephys/tpw085","url":null,"abstract":"<p><p>Assessing intra-specific variation in drought stress response is required to mitigate the consequences of climate change on forest ecosystems. Previous studies suggest that European larch (Larix decidua Mill.), an important European conifer in mountainous and alpine forests, is highly vulnerable to drought. In light of this, we estimated the genetic variation in drought sensitivity and its degree of genetic determination in a 50-year-old common garden experiment in the drought-prone northeastern Austria. Tree ring data from larch provenances originating from across the species' natural range were used to estimate the drought reaction in four consecutive drought events (1977, 1981, 1990–1994, and 2003) with extremely low standardized precipitation- and evapotranspiration-index values that affected growth in all provenances. We found significant differences among provenances across the four drought periods for the trees’ capacity to withstand drought (resistance) and for their capacity to reach pre-drought growth levels after drought (resilience). Provenances from the species' northern distribution limit in the Polish lowlands were found to be more drought resistant and showed higher stability across all drought periods than provenances from mountainous habitats at the southern fringe. The degree of genetic determination, as estimated by the repeatability, ranged up to 0.39, but significantly differed among provenances, indicating varying degrees of natural selection at the provenance origin. Generally, the relationship between the provenances’ source climate and drought behavior was weak, suggesting that the contrasting patterns of drought response are a result of both genetic divergence out of different refugial lineages and local adaptation to summer or winter drought conditions. Our analysis suggests that European larch posseses high genetic variation among and within provenances that can be used for assisted migration and breeding programs.</p>","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"7 2 1","pages":"33-46"},"PeriodicalIF":0.0,"publicationDate":"2017-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86689550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pregnancy as Foreground in Cystic Fibrosis Carrier Testing Decisions in Primary Care","authors":"K. Sparbel, Janet K. Williams","doi":"10.1089/gte.2008.0085","DOIUrl":"https://doi.org/10.1089/gte.2008.0085","url":null,"abstract":"","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"1 1","pages":"090108090224061"},"PeriodicalIF":0.0,"publicationDate":"2009-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61148258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Counseling: A Medical Approach","authors":"P. Cavalli","doi":"10.1089/gte.2008.0010","DOIUrl":"https://doi.org/10.1089/gte.2008.0010","url":null,"abstract":"","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"1 1","pages":"090108090224061"},"PeriodicalIF":0.0,"publicationDate":"2009-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61147260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dysferlinopathy in Chile: Evidence of Two Novel Mutations in the First Reported Cases","authors":"J. Bevilacqua, M. Krahn, L. Pedraza, R. Gejman, S. González, N. Lévy","doi":"10.1089/gte.2008.0091","DOIUrl":"https://doi.org/10.1089/gte.2008.0091","url":null,"abstract":"","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"1 1","pages":"090108090224061"},"PeriodicalIF":0.0,"publicationDate":"2009-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61148294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-Throughput Identification of Mutations Using a Combination of CEL I Fragmentation and SAGE Technology","authors":"Chi Zhang, Yuan-yuan Li, Xianliang Wang, Lijun Zhang, Xiaobo Li, Youjie Wang, Shunqing Xu","doi":"10.1089/gte.2008.0078","DOIUrl":"https://doi.org/10.1089/gte.2008.0078","url":null,"abstract":"","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"1 1","pages":"090108090224061"},"PeriodicalIF":0.0,"publicationDate":"2009-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61148193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interpopulation variation frequency of human inosine 5'-monophosphate dehydrogenase type II (IMPDH2) genetic polymorphisms.","authors":"M. F. Mohamed, R. Frye, T. Langaee","doi":"10.1089/gte.2008.0049","DOIUrl":"https://doi.org/10.1089/gte.2008.0049","url":null,"abstract":"Inosine monophosphate dehydrogenase type II (IMPDH2) is the target for immunosuppression by mycophenolic acid and has been linked to resistance of tumor cells to chemotherapy. Determining the frequency of IMPDH2 genetic polymorphisms can inform the design of clinical studies investigating the impact of IMPDH2 genetic variability on both cancer therapy and immunosuppression. Frequencies of three IMPDH2 polymorphisms (rs4974081, rs5848860, and rs11557540) in >400 DNA samples from four different racial/ethnic groups (Caucasian, African American, Hispanic, and Asian populations) were characterized by the pyrosequencing genotyping method. For rs5848860 1591 CTT/- (500 G/EG) and rs11557540 1345 A/G (418 D/G), we did not observe any variant alleles in all DNA samples from these populations, which suggests that these variants could simply be sequencing errors rather than real polymorphisms. The observed frequency of the 5'-upstream single-nucleotide polymorphism (SNP) rs4974081 A/G was similar to that previously reported in the NCBI databank (dbSNP). An in silico functional analysis using FASTSNP predicts that this promoter SNP rs4974081 (-3624 A/G) could be a potential transcription factor binding site. This finding suggests that rs4974081 could be a good candidate SNP for association studies with immunosuppressive and chemotherapeutic therapy outcomes.","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"12 4 1","pages":"513-6"},"PeriodicalIF":0.0,"publicationDate":"2008-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1089/gte.2008.0049","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61147648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin D receptor gene polymorphism and osteoporosis in the Turkish population.","authors":"A. Uysal, M. Şahin, A. Gürsoy, S. Güllü","doi":"10.1089/gte.2008.0052","DOIUrl":"https://doi.org/10.1089/gte.2008.0052","url":null,"abstract":"Osteoporosis is one of the most important medical problems facing the aging population. It is defined as a decrease in the bone mass leading to an unacceptably high risk of fractures. Osteoporosis is a multifactorial disease. It is well established that genetic factors are involved in the pathogenesis of osteoporosis. Polymorphism of the vitamin D receptor (VDR) gene has been reported to play a major role in variations for genetic regulation of bone mass. Its role within various ethnic populations is not clear. The purpose of this project was to determine the frequencies of VDR genotypes in Turkey. Three polymorphisms of the VDR gene were analyzed using the polymerase chain reaction-restriction fragment length polymorphism technique. The sample for our study was comprised of postmenopausal women in Turkey, 100 of whom were diagnosed with osteoporosis. They were compared with 146 healthy controls. BsmI genotype frequencies in Turks resemble Caucasians rather than Asians, and Taq genotype frequencies in Turks neither resemble Caucasians nor Asians. The genotype frequencies of VDR were not statistically different between patients with osteoporosis and the control group. Among VDR haplotypes, bbAATT and bbTtAa are more frequent in the osteoporosis group than the control group.","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"1144 1","pages":"591-4"},"PeriodicalIF":0.0,"publicationDate":"2008-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1089/gte.2008.0052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61147763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.","authors":"Hirofumi Kojima, T. Wada, H. Seki, T. Kubota, K. Wakui, Y. Fukushima","doi":"10.1089/gte.2008.0048","DOIUrl":"https://doi.org/10.1089/gte.2008.0048","url":null,"abstract":"Multiple osteochondromas (MO; also referred to as hereditary multiple exostoses [HME] in the literature) is an autosomal dominant disorder characterized by benign, cartilage-capped bone tumors that grow from the metaphyses of long bones. Two genes are associated with this disease: EXT1 on 8q24.11-q24.13 and EXT2 on 11p12-p11. Mutations in EXT1 and EXT2 are found in 54-96% of patients with MO and are generally more frequent in EXT1 than in EXT2. We previously studied 43 Japanese families with MO using single-strand conformation polymorphism analysis for EXT1 and EXT2, and reported 23 families (54%) with mutations and 20 families (46%) with no mutations in these genes. Among the families with mutations, 17 families (40%) had mutations in EXT1, and 6 families (14%) had mutations in EXT2. Here we examined the same 43 Japanese families using denaturing high-performance liquid chromatography as an alternative technique. We detected five mutations, three of which are novel, in seven families in addition to the previously described mutations. In summary, we detected mutations in EXT1 or EXT2 in 30 (70%) out of 43 families. Our result suggests the presence of other gene(s) responsible for MO, at least in Japanese patients.","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"12 4 1","pages":"557-61"},"PeriodicalIF":0.0,"publicationDate":"2008-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1089/gte.2008.0048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61147532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.","authors":"I. Agouti, C. Badens, A. Abouyoub, N. Lévy, M. Bennani","doi":"10.1089/gte.2008.0058","DOIUrl":"https://doi.org/10.1089/gte.2008.0058","url":null,"abstract":"We present the molecular spectrum of beta-thalassemia in the Moroccan population obtained by the identification of molecular defects responsible for this disease, and herewith we show that the Moroccan population is genetically heterogeneous; 18 different mutations have been found in the 158 beta-globin chromosomes studied. Eight mutations [codon 39 (C --> T), FSC-8 (-AA), IVS-II-745 (C --> G), -29 (A --> G), FSC-6 (-A), IVS-I-110 (G --> A), IVS-I-2 (T --> C), and IVS-I-1 (G --> A)] out of 18 beta-thalassemia mutations identified accounted for 76% of the Moroccan beta-thalassemia chromosomes. Restriction fragment length polymorphism (RFLP) haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow due to migration.","PeriodicalId":79890,"journal":{"name":"Genetic testing","volume":"12 4 1","pages":"563-8"},"PeriodicalIF":0.0,"publicationDate":"2008-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1089/gte.2008.0058","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61147850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}