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Genetics
Published in Rachel U Sidwell, Mike A Thomson, Concise Paediatrics, 2020
Rachel U Sidwell, Mike A Thomson
This is the use of DNA markers to track a gene through a family and to help map a gene. Using linkage analysis, a specific chromosomal region is identified in which the gene is located (the region may contain several million DNA base pairs).
An Introduction and Review of DNA Profile Interpretation
Published in Jo-Anne Bright, Michael D. Coble, Forensic DNA Profiling, 2019
Jo-Anne Bright, Michael D. Coble
The DNA markers tested for forensic analysis are known as short tandem repeats, or STRs, and are found throughout the human genome. We refer to these specific “locations” as a locus (a single position of interest) or loci (two or more markers of interest). The names of the loci can tell us a little bit about themselves. For example, the forensic STR marker D8S1179 refers to a location on the DNA chromosome 8, that is a single-copy marker (i.e., this is the only place in the genome where this marker is found), and was the 1179th marker that was identified on the chromosome. The STR marker TPOX refers to a location within the intron (noncoding region) of the thyroid peroxidase gene.
Clinical Management of Huntington’s Disease: The Role of Pet and DNA Linkage Studies
Published in W. R. Wayne Martin, Functional Imaging in Movement Disorders, 2019
Michael R. Hayden, Walter Ammann
Huntingon’s disease is inherited as an autosomal dominant trait. The gene is fully penetrant and, therefore, all persons who inherit the mutant gene will manifest signs and symptoms if they live long enough. A polymorphic DNA marker has been described that is closely linked to the HD gene.3 This marker has been mapped to the tip of the short arm of chromosome 4 (4p16), which indicates the approximate location of the gene for HD.4,5 More recently, other genetic markers (D4S62, D4S95) in the region of the HD gene have also been described.6,7
Genetic diversity of 23 STR loci of the Guizhou Tujia ethnic minority and the phylogenetic relationships with 22 other populations
Published in Annals of Human Biology, 2023
Shuhua Li, Siyu Chai, Limei Yu, Tao Zhang, Zulin Liu, Yinlei Lei, Kaiqin Chen, Hao Zhang, YanFei Liu, Pengyu Chen
Short tandem repeats (STRs) are repetitive nucleotide sequences ranging from 2 to 6 base pairs widely distributed throughout the human genome (Edwards et al. 1991; Ellegren 2004; Jobling and Gill 2004; Chen et al. 2018). Due to their high level of polymorphic information, STR markers have become the gold standard in forensic DNA analysis, especially in human identification and paternity testing, surpassing other DNA markers such as single nucleotide polymorphisms (SNPs) (Zhang 2015; Yao and Wang 2016; He et al. 2018; Wu et al. 2020). In recent years, new commercial multiple STR detection systems containing more autosomal STRs have been developed to further improve their discriminating ability with the increasing growth of forensic DNA databases. Additionally, STRs are frequently used in human population genetics to predict the population genetic structure of geographically and ethno-linguistically diverse subpopulations via genetic affinity analysis (Gao et al. 2021; Kumar et al. 2021; Tran et al. 2021; Wang et al. 2021; Chandra et al. 2022).
Genetic diversity, allelic variation and marker trait associations in gamma irradiated mutants of rice (Oryza sativa L.)
Published in International Journal of Radiation Biology, 2022
S. Ramchander, M. T. Andrew Peter Leon, J. Souframanien, M. Arumugam Pillai
Screening of mutants is a laborious task since a majority of the nucleotide variations produce very little or no phenotypic effects to observe. DNA markers are useful tools in such situations due to their hypervariability, high reproducibility, high throughput, and the ability to screen variations regardless of the stage of the crop and no influence by the growing environment. Although a variety of molecular markers such as restriction fragment length polymorphisms (RFLP) (Botstein et al. 1980; Paran and Michelmore 1993; Becker et al. 1995), randomly amplified polymorphic DNA (RAPD) (Williams et al. 1990; Tingey and del Tufo 1993), amplified fragment length polymorphism (AFLP) (Thomas et al. 1995; Vos et al. 1995; Mackill et al. 1996; Zhu et al. 1998), inter simple sequence repeats (ISSRs) (Albani and Wilkinson 1998; Blair et al. 1999), single-nucleotide polymorphisms (SNPs) (Vieux et al. 2002) and diversity array technology (DArT) (Wenzl et al. 2004) are available, simple sequence repeats (SSRs) (Tautz and Renz 1984; Levinson and Gutman 1987) remains one of the favorite choices in rice breeding. SSRs are wellspread in the eukaryote genome (Field and Wills 1996) and are found in mitochondria (Kumar et al. 2014) and chloroplasts (Kapil et al. 2014). This abundance, co-dominant nature, and ease-of-use make SSRs as one of the preferred method in characterizing mutants, for example: rice mutants developed from N-nitroso-N-methyl urea (Tu Anh et al. 2018), Basmati mutants developed from ethyl methane sulfonate (Hameed et al. 2020) and gamma ray induced mutants of rice (Aryanti and Ishak 2018).
Genetic analysis of sixteen autosomal STR loci in three Tunisian populations from Makthar, Nabeul and Sousse
Published in Annals of Human Biology, 2021
Rim Al-Haj-Taib, Abir Mejri, Claus Børsting, Vania Pereira, Sarra Elkamel, Rene J. Herrera, Amel Benammar-Elgaaied, Karima Fadhlaoui-Zid
Short repetitive regions known as short tandem repeats (STRs) are currently used for both forensic applications and population genetic research. STRs have become popular as DNA markers because they are easily amplified by the polymerase chain reaction (PCR) (Butler 2012; Butler and Hill 2012) and their length analysed using electrophoresis. Length variations among individuals in STRs loci have been used in forensic applications since the 1990s, due to the ease with which these loci can be multiplexed and their high degree of heterogeneity (Gettings et al. 2016). The aim of this investigation was to genetically characterise the three aforementioned Tunisian populations and to provide information on the complex pattern of migration and admixture expected from historical data through forensic analysis using autosomal STRs.