The methodological establishment of variable number of tandem repeat(s) (VNTR) genotyping of Mycobacterium tuberculosis has opened a new era of molecular epidemiology against tuberculosis (TB). The method can provide simple, rapid and accurate identification of clinical isolates from TB patients that makes it possible to compare the isolates among different laboratories. Such advantages of VNTR not only help us certify the identification of isolates in putative outbreaks easily but also promote the reasonable estimation of unidentified transmissions in surveillance studies. Recently, the Japan Anti-Tuberculosis Association (JATA) (12)-VNTR has become a standard genotyping method of M. tuberculosis, and its spread has been expected in Japan. In Osaka City, located in the western part of the country, JATA (12)-VNTR has been applied to molecular epidemiological study of TB. Moreover, the additional 12 VNTR loci have been analyzed for various purposes, such as to enhance the discriminatory power (public health needs) or to further analyze the population genetic structure (research needs). As the nationwide findings of VNTR genotyping of M. tuberculosis are accumulated, this technology will be increasingly useful for detecting transmission of any specific strain in large geographic areas that could not be recognized by conventional epidemiological methods. The needs for the VNTR genotyping of M. tuberculosis and its practical uses are expected to expand drastically in the future.
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Nat Commun
January 2025
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Studies of the genetics of Alzheimer's disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, most of the disease heritability has yet to be uncovered, suggesting that there is substantial genetic risk conferred by other forms of genetic variation. There are over one million short tandem repeats (STRs) in the genome, and their link to AD risk has not been assessed.
View Article and Find Full Text PDFPlacenta
January 2025
Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan City, Taiwan. Electronic address:
Background: Preeclampsia (PE) is a serious condition characterized by hypertension and proteinuria after 20 weeks of gestation. The exact cause of PE is unknown but may involve abnormalities in the renin-angiotensin-aldosterone system (RAAS) and endothelial nitric oxide synthase (eNOS). Genetic variations in angiotensinogen (AGT), angiotensin-converting enzyme (ACE), and eNOS genes have been associated with PE.
View Article and Find Full Text PDFIndian J Clin Biochem
January 2025
Department of Biology, Faculty of Basic Sciences, Kazerun Branch, Islamic Azad University, Kazerun, Iran.
The cystathionine beta-synthase (CBS) gene plays a critical role in numerous physiological processes, including cellular proliferation, bioenergetics, and redox balance, and has been implicated in many cancers, including breast and gastric cancers. Previous studies have suggested that VNTR polymorphism in intron 13 of the CBS gene may influence enzyme activity, as an increase in the number of repeats in this VNTR leads to a reduction in the activity of the CBS enzyme. In this case-control study, for the first time, we genotyped 107 patients with gastric cancer (and 111 healthy controls) and 138 patients with breast cancer (and 124 healthy controls) for the CBS VNTR polymorphism using PCR.
View Article and Find Full Text PDFCureus
December 2024
Department of Biochemistry, Era University, Era's Lucknow Medical College and Hospital, Lucknow, IND.
Purpose Fibromyalgia syndrome (FMS) presents a chronic pain condition affecting muscles and joints. Investigating circadian rhythms' disruption, integral to physiological responses, this study delves into the potential impact of gene polymorphism (rs57875989) on FMS pathogenesis. Methods In this study, we investigated gene polymorphism in 100 FMS patients and an equal number of control individuals.
View Article and Find Full Text PDFBMC Genomics
December 2024
Pathology and Biomedical Science Department, University of Otago Christchurch, Christchurch, New Zealand.
Background: Anorexia nervosa (AN) is a polygenic, severe metabopsychiatric disorder with poorly understood aetiology. Eight significant loci have been identified by genome-wide association studies (GWAS) and single nucleotide polymorphism (SNP)-based heritability was estimated to be ~ 11-17, yet causal variants remain elusive. It is therefore important to define the full spectrum of genetic variants in the wider regions surrounding these significantly associated loci.
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