Geneticists have repeatedly turned to population isolates for mapping and cloning Mendelian disease genes. Population isolates possess many advantages in this regard. Foremost among these is the tendency for affected individuals to share ancestral haplotypes derived from a handful of founders. These haplotype signatures have guided scientists in the fine mapping of scores of rare disease genes. The past successes with Mendelian disorders using population isolates have prompted unprecedented interest among medical researchers in both the public and private sectors. Despite the obvious genetic and environmental complications, geneticists have targeted several population isolates for mapping genes for complex diseases.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/35042049 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Headache in radiologically isolated syndrome: a hint toward imminent conversion: a case report.
J Med Case Rep
January 2025
School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Background: Headaches are more prevalent in patients with multiple sclerosis compared with the general population. However, headaches are still considered a rare symptom of multiple sclerosis, especially when they appear as an initial symptom. The occurrence of a headache as a symptom of radiologically isolated syndrome (RIS) is uncommon, and it can significantly increase the likelihood of developing multiple sclerosis.
View Article and Find Full Text PDFMobile health clinics in a rural setting: a cost analysis and time motion study of La Clínica in Oregon, United States.
BMC Health Serv Res
January 2025
University of California, San Francisco Institute for Health & Aging, #123K, 490 Illinois Street, San Francisco, CA, 94158, USA.
Background: Mobile Health Clinics (MHCs) are an alternate form of healthcare delivery that may ameliorate current rural-urban health disparities in chronic diseases and have downstream impacts on the health system by reducing costs. Evaluations of providers' time allocation on MHCs are scarce, hindering knowledge transfer related to MHC implementation strategies.
Methods: Retrospective economic cost was assessed using business ledgers and expert assessments in 2023 US Dollar (USD) from 2022 to 2023.
The Beijing Sentence Corpus II: A cross-script comparison between traditional and simplified Chinese sentence reading.
Behav Res Methods
January 2025
Department of Sport and Health Sciences, University of Potsdam, Potsdam, Germany.
We introduce a sentence corpus with eye-movement data in traditional Chinese (TC), based on the original Beijing Sentence Corpus (BSC) in simplified Chinese (SC). The most noticeable difference between TC and SC character sets is their visual complexity. There are reaction time corpora in isolated TC character/word lexical decision and naming tasks.
View Article and Find Full Text PDFFermented foods affect the seasonal stability of gut bacteria in an Indian rural population.
Nat Commun
January 2025
Laboratory of Microbiology, Wageningen University & Research, 6708, WE, Wageningen, The Netherlands.
The effect of fermented foods on healthy human gut microbiota structure and function, particularly its seasonal preference and frequent long-term consumption, has been largely uncharacterised. Here, we assess the gut microbiota and metabolite composition of 78 healthy Indian agrarian individuals who differ in the intake of fermented milk and soybean products by seasonal sampling during hot-humid summer, autumn and dry winter. Here we show that, seasonal shifts between the Prevotella- and Bifidobacterium/Ruminococcus-driven community types, or ecological states, and associated fatty acid derivatives, with a bimodal change in Bacteroidota community structure during summer, particularly in fermented milk consumers.
View Article and Find Full Text PDFAntimicrobial Susceptibility and Genomic Characterization of Vibrio cholerae Non-O1/non-O139 Isolated from Clinical and Environmental Samples in Jiaxing City, China.
FEMS Microbiol Lett
January 2025
Jiaxing Key Laboratory of Pathogenic Microbiology, Jiaxing Center for Disease Control and Prevention, Jiaxing 314050, China.
Non-O1/non-O139 (NOVC) strains inhabit aquatic environments and sporadically induce human illnesses. This study involved the virulence and antimicrobial genetic characterization of 176 NOVC strains, comprising 25 from clinical samples and 151 from environmental sources, collected between 2021 and 2023. The antimicrobial susceptibility of the examined NOVC population was predominantly high, exhibiting only poor susceptibility to colistin, with 89.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!