Cancer genomics in clinics
Shirley Sun in Socio-economics of Personalized Medicine in Asia, 2016
Moreover, the physicians explained that there is no perfect correlation between ethnicity and genotype. That is, there is no gene variant that is present in only one ethnic group, nor is there an ethnic group whose members all carry the same gene variant. Hence, ethnicity should not be used as a proxy for the presence or absence of a gene variant. These points were articulated by Dr. Koh: Based on all the data that we’ve seen so far … in terms of the distribution and frequency [of the genetic variant]? It’s very unlikely that you’re [going to] find a population with an allele frequency of 99 percent. I mean, we’ve never seen anything like that.Even if it’s 50 percent, if it’s 50 percent, you’re [going to] be wrong 50 percent of the time! You can’t do that. You can’t be wrong 50 percent of the time, that’s unacceptable.
Association of PAI-1 4G/5G and ACE I/D Polymorphisms with Susceptibility to Pediatric Sepsis: Evidence from a Meta-Analysis
Published in Fetal and Pediatric Pathology, 2022
Mohammad Hosein Jarahzadeh, Mohammadali Jafari, Neda Seifi-Shalamzari, Farzad Ferdosian, Reza Bahrami, Ali Raee-Ezzabadi, Zahra Nafei, Ahmad Shajari, Seyed Reza Mirjalili, Hossein Neamatzadeh
Studies satisfying the following criteria were included for review: 1) observational studies (case-control or cohort studies) on humans; 2) published studies on the association of PAI-1 4G/5G and ACE I/D polymorphisms with susceptibility to pediatric sepsis; 3) sepsis diagnosed on the basis of clinical examination and confirmed during the surgeries; 4) Each genotype distribution and individual numbers in the case and control groups should be provided or can be calculated for each genotype given or the number needed can be calculated by the frequency of each genotype given; 5) studies that were required to provide available data to calculate the odds ratio (OR) and the corresponding 95% confidence interval (95% CI). Correspondingly, studies were excluded if they met with the following characteristics: 1) not a case-control or cohort study; 2) studies did not evaluate the association of ACE or PAI-1 polymorphism with risk of pediatric sepsis; 3) the data of genotype frequency and allele frequency in the literature are incomplete or unclear; 4) studies on other PAI-1 and ACE gene polymorphisms; 5) case reports, posters, presentations, meeting abstracts, editorial articles, case series, comments, conference, review articles, and meta-analyses; and 6) duplicates or overlapping studies. If potentially eligible studies reported overlapped data or authors published two or more studies using the same data, the most comprehensive one was included in the meta-analysis.
Forensic features and phylogenetic analyses of the population of Nayagarh (Odisha), India using 23 Y-STRs
Published in Annals of Human Biology, 2022
Muktikanta Panda, Ramkishan Kumawat, Shivani Dixit, Awdhesh Narayan Sharma, Hari Shankar, Gyaneshwer Chaubey, Pankaj Shrivastava
For each Y-STR locus, the allele frequencies and gene diversity (GD) values have been mentioned in Tables 1 and 2, respectively. For the male population of Nayagarh, Odisha, a total of 44 alleles were observed at 23 Y-STR loci. The range of allele frequency was found to be between 0.004 and 0.797. Locus-wise, the number of alleles seen were in the range of 4 (for locus DYS389I, DYS437 and DYS439) to 19 (for locus DYS385a/b). 55 allelic combinations were observed at the multi-copy loci DYS385a/b. A total of 33 allelic micro-variants were observed at 11 markers (Table 3); DYS576 (16.3 in single copy), DYS448 (17.2 in single copy), DYS389II (31.1 in single copy and 28.2 in two copies), DYS437 (13.2 in single copy), DYS570 (18.3 in single copy), DYS635 (23.1 in two copies), DYS392 (11.2 in four copies,10.2 in two copies and 14.1 in single copy), DYS643 (9.2 in two copies and 10.1 in single copy), DYS458 (15.1 in six copies and 19.2 in single copy), DYS385a (15.2, 10.1, and 11.3 in single copy) and DYS385b (15.2 in three copies and 16.2 in single copy). Here no null allele was observed.
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review
Published in Critical Reviews in Clinical Laboratory Sciences, 2018
Marielle Labrousse, Charlotte Kevorkian-Verguet, Guilaine Boursier, Dorota Rowczenio, François Maurier, Estibaliz Lazaro, Manjari Aggarwal, Irène Lemelle, Thibault Mura, Alexandre Belot, Isabelle Touitou, Guillaume Sarrabay
These new discoveries have a significant impact on the indications for genetic testing and the interpretation of the tests. Early age at onset has long been an important criterion before diagnosing hereditary AID because genes with a strong effect are expected to be expressed at birth or soon after. Indeed, in a national epidemiological study conducted in 2012 [48], we found that 86% of genetically confirmed CAPS patients showed symptoms before age 10 years, which prompted us to establish early age at disease onset as one of the prerequisites for ordering genetic analysis of the NLRP3 gene. This study was based on Sanger sequencing, and mosaicism was not investigated at that time. In this present review that is focused on mosaicism, a significant number of patients were over age 30 years. Although we cannot rule out that this observation may be due to the fluctuation of the cellular subset carrying the mutation in whole blood, an increase in the mutated allele frequency over time was detected in two studies. For these reasons, we are now reconsidering the prerequisite of early age at onset in patients with a convincing AID clinical and biological phenotype, even if no association between the age of onset of the symptoms and frequency of the mutated allele was demonstrated.
Related Knowledge Centers
- Allele
- Ploidy
- Population Genetics
- Somatic Cell
- Gene
- Locus
- Microevolution
- Genotype Frequency
- Allele Frequency Spectrum
- Hardy–Weinberg Principle