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Liver, Biliary Tract and Pancreatic Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
The disease is autosomal recessive, resulting from a mutation in the Wilson's disease protein (ATP7B) gene. Too many genetic abnormalities have been determined to allow for routine use of genetic markers in making the diagnosis.
Genetic Influences on Susceptibility to Seizures
Published in Stanley R. Resor, Henn Kutt, The Medical Treatment of Epilepsy, 2020
Among all of the methods that can be used to invesigate genetic influences on complex disorders, none is more powerful than linkage analysis (21). This method is not susceptible to the usual kinds of bias problematic for epidemiologic studies. Most genetic markers have no obvious social connotations or clinical manifestations, and marker information is collected by laboratory analysis of biological samples, rather than by interviews with affected or unaffected individuals. Coinheritance of seizure disorders and a specific marker allele within families would therefore provide strong evidence of both the existence and chromosomal location of a susceptibility gene.
The Genetics of Alzheimer Disease:
Published in Robert E. Becker, Ezio Giacobini, Alzheimer Disease, 2020
The search for genetic markers involves the use of molecular genetics, a newly emerging technology. Such techniques have been instrumental in closing-in on the Huntington’s disease (HD) genotype (Brandt et al., 1989). Applications of molecular genetics to the study of AD will be the focus of a later section of this chapter.
Preimplantation genetic testing in two Danish couples affected by Peutz–Jeghers syndrome
Published in Scandinavian Journal of Gastroenterology, 2023
Anna Byrjalsen, Laura Roos, Tue Diemer, John Gásdal Karstensen, Kristine Løssl, Anne Marie Jelsig
Opting for PGT-M can confer technical challenges; PGT-M in Denmark is based on either genetic marker analysis, direct testing for the pathogenic variant, or a combination of both. A genetic marker analysis is a microsatellite polymorphic marker analysis, which essentially is a screening for the allele on which the pathogenic variant is located. In order to establish a microsatellite polymorphic marker analysis, DNA from a minimum of two affected relatives are needed to ensure identification of the specific allele carrying the pathogenic variant. Additionally, it is not always technically possible to establish the markers, despite having DNA from two affected family members. The chance of achieving a pregnancy through PGT-M has increased in recent years, going from a 20 − 25% chance for each blastocyst transfer to roughly 40% today [13], but PGT-M is time consuming, making the option of PGT less attractive for patients who are eager to achieve a pregnancy within a short time frame.
Quantile-specific heritability of serum growth factor concentrations
Published in Growth Factors, 2021
Angiogenesis is crucial for tumor growth and metastasis. Targeting the vascular endothelial growth factor pathway with anti-VEGF drugs such as ranibizumab, bevacizumab, and aflibercept has shown variable success in treating metastatic renal cell carcinoma and for nonsquamous non-small-cell lung cancer, melanoma, glioblastoma, pancreatic cancer, and metastatic colorectal cancer (Hsu and Wakelee 2009; Saif 2013). Precision medicine seeks to individualize pharmacological treatment through the use of genetic markers that identify patients most likely to benefit from drug prescriptions. However, our demonstration that VEGF heritability is quantile dependent suggests that that the genetic markers could simply trace the heritability decrease with decreasing plasma VEGF concentrations.
The genomic ancestry of Jat Sikh population from Northwest India inferred from 15 autosomal STR markers using capillary electrophoresis
Published in Annals of Human Biology, 2020
Sonia Kakkar, Pankaj Shrivastava, Shatrughan Prasad Mandal, Kiran Preet, Ramkishan Kumawat, Gyaneshwer Chaubey
A large number of studies based on population diversity have been reported from different populations around the world, but reports from Indian populations on genetic diversity at STR loci are still relatively scarce. This makes their potential use limited in various sorts of genetic analyses. Baseline data on genetic markers are warranted for evolutionary studies, origin studies, sorting out issues like immigration disputes, lineage disputes, and for forensic purposes. The present study explores the genetic portrait of the Jat Sikh population of Punjab, India, on 15 highly polymorphic autosomal microsatellite markers, including 13 core forensic loci. The distribution of alleles in the studied population is compared with previously published data on the same markers from different geographical areas of India (caste specific available information).