This paper describes the Centre d'Etude du Polymorphisme Humain (CEPH) consortium linkage map of human chromosome 1. The map contains 101 loci defined by genotypes generated from CEPH family DNAs with 146 different contributions from 11 laboratories. A total of 58 loci are uniquely placed on the map with likelihood support of at least 1000:1. The map extends from loci in the terminal bands of both chromosome arms (locus D1Z2 in 1p36.3 and D1S68 in 1q44) and is anchored at the centromere by the D1Z5 alpha-satellite polymorphism. With the exception of a single locus, the remaining loci are arrayed on the fixed map in short intervals and their possible locations are indicated. Multipoint linkage analyses provided estimates that the male, female, and sex-averaged maps extend for 308, 478, and 390 cM, respectively. The sex-averaged map contains only four intervals greater than 15 cM, and the mean genetic distance between the 58 uniquely placed loci is 6.7 cM.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/0888-7543(91)90362-i | DOI Listing |
BMC Immunol
January 2025
Laboratoire Génomique, Bioinformatique, et Chimie Moléculaire, Conservatoire National des Arts et Métiers, 2 rue Conté 75003, Paris, EA7528, France.
Introduction: We have reanalyzed the genomic data from the International Collaboration for the Genomics of HIV (ICGH), focusing on HIV-1 Elite Controllers (EC).
Methods: A genome-wide association study (GWAS) was performed, comparing 543 HIV-1 EC individuals with 3,272 uninfected controls (CTR) of European ancestry. 8 million single nucleotide polymorphisms (SNPs) and HLA class I and class II gene alleles were imputed to compare EC and CTR.
G3 (Bethesda)
December 2024
Inserm, Université de Bretagne-Occidentale, EFS, UMR 1078, GGB, F-29200 Brest, France.
Genotype-phenotype association tests are typically adjusted for population stratification using principal components that are estimated genome-wide. This lacks resolution when analysing populations with fine structure and/or individuals with fine levels of admixture. This can affect power and precision, and is a particularly relevant consideration when control individuals are recruited using geographic selection criteria.
View Article and Find Full Text PDFGastro Hep Adv
April 2024
Division of Medicine, UCL Respiratory, University College London, London, UK.
Background And Aims: Children with alpha-1-antitrypsin deficiency (AATD) exhibit a wide range of liver disease outcomes from portal hypertension and transplant to asymptomatic without fibrosis. Individual outcomes cannot be predicted. Liver injury in AATD is caused by the accumulation in hepatocytes of the mutant Z alpha-1-antitrypsin (AAT) protein, especially the toxic, intracellular polymerized conformation.
View Article and Find Full Text PDFSci Rep
January 2024
Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
Imputation servers offer the exclusive possibility to harness the largest public reference panels which have been shown to deliver very high precision in the imputation of European genomes. Many studies have nonetheless stressed the importance of 'study specific panels' (SSPs) as an alternative and have shown the benefits of combining public reference panels with SSPs. But such combined approaches are not attainable when using external imputation servers.
View Article and Find Full Text PDFBMC Infect Dis
April 2023
Département de Santé Publique, Hôpital Saint-Antoine, AP-HP.Sorbonne Université, F75012, Paris, France.
Background: Taste or smell disorders have been reported as strongly associated with COVID-19 diagnosis. We aimed to identify subject characteristics, symptom associations, and antibody response intensity associated with taste or smell disorders.
Methods: We used data from SAPRIS, a study based on a consortium of five prospective cohorts gathering 279,478 participants in the French general population.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!