Objective: To assess the efficacy of denaturing high-performance liquid chromatography (DHPLC) as a new screening assay for sequence variation in SNP detecting and new approach to SNP genotyping.
Methods: DHPLC was used to screen SNPs in 8 DNA pools each consisting of DNA from 5 individuals, and genotype the identified SNPs in 150 Chinese subjects from Hong Kong.
Results: Seventeen SNPs were identified: 12 were novel and 5 were previously reported; 11 were found in screening stage and the other 6 were found in genotyping stage; 2 were only found in Caucasian samples; 3 showed ethnic difference of minor allele frequency(MAF); 7 were common with the MAF>0.05 in Chinese samples.
Conclusion: The results demonstrated the efficiency of DHPLC in screening SNPs when coupled with DNA pooling strategy, and in genotyping SNPs.
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http://dx.doi.org/10.3785/j.issn.1008-9292.2005.03.012 | DOI Listing |
J Cell Mol Med
December 2024
Reproductive Genetics Department, Hebei General Hospital, Shijiazhuang, Hebei, China.
Ann Hum Biol
February 2024
Faculty of Medicine, Human Genetics Laboratory, Universidad de La Sabana, Chía, Colombia.
Background: Colombia has a mestizo population and the prevalence of haemoglobin variants varies according to each region, but heterozygous carriers can be found in all of them.
Aim: To characterise sickle cell disease (SCD) haematologically, biochemically, and molecularly, and detect classic haplotypes by DNA sequencing in a group of samples from Bolívar, Colombia.
Subjects And Methods: Blood samples were collected after informed consent from volunteers from eight communities in the Bolívar department, plus samples from the Pacific region, Providencia Island, and Bogotá were included.
Cureus
February 2023
Siriraj Genomics, Office of the Dean, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, THA.
Introduction Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder caused by germline mutations in the serine-threonine kinase 11 () tumor suppressor gene. This syndrome is characterized by hamartomatous gastrointestinal polyps, mucocutaneous melanin pigmentation, and a higher risk of developing various cancers. Methods We summarized the clinical and molecular characteristics of five unrelated Thai patients with PJS.
View Article and Find Full Text PDFVet Sci
July 2022
Department of Veterinary Medical Sciences, University of Bologna, Ozzano dell'Emilia, 40064 Bologna, Italy.
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the canine gastrointestinal tract and are diagnosed by the immunohistochemical expression of the receptor tyrosine kinase (RTK) KIT. Activating mutations of the proto-oncogenes and drive GIST oncogenesis and are used to predict the response to RTK-inhibitors in human oncology. Currently, the frequency and significance of these mutations in canine GIST have not been adequately explored.
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