1 resultado para Runs of homozygosity
em DI-fusion - The institutional repository of Université Libre de Bruxelles
Filtro por publicador
- Abertay Research Collections - Abertay University’s repository (1)
- Academic Research Repository at Institute of Developing Economies (1)
- Acceda, el repositorio institucional de la Universidad de Las Palmas de Gran Canaria. España (2)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (4)
- Aquatic Commons (24)
- ArchiMeD - Elektronische Publikationen der Universität Mainz - Alemanha (3)
- Archive of European Integration (4)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (1)
- Aston University Research Archive (34)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (10)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (10)
- Biblioteca Digital de la Universidad Católica Argentina (1)
- Bioline International (2)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (40)
- Boston University Digital Common (5)
- Brock University, Canada (6)
- Bucknell University Digital Commons - Pensilvania - USA (3)
- Bulgarian Digital Mathematics Library at IMI-BAS (2)
- CaltechTHESIS (7)
- Cambridge University Engineering Department Publications Database (3)
- CentAUR: Central Archive University of Reading - UK (74)
- Centro Hospitalar do Porto (1)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (21)
- Coffee Science - Universidade Federal de Lavras (1)
- CORA - Cork Open Research Archive - University College Cork - Ireland (1)
- CUNY Academic Works (1)
- Dalarna University College Electronic Archive (2)
- Deakin Research Online - Australia (24)
- DI-fusion - The institutional repository of Université Libre de Bruxelles (1)
- Digital Commons - Michigan Tech (2)
- Digital Commons - Montana Tech (2)
- Digital Commons @ DU | University of Denver Research (2)
- Digital Commons at Florida International University (3)
- Digital Peer Publishing (2)
- Digital Repository at Iowa State University (1)
- DigitalCommons@The Texas Medical Center (8)
- DRUM (Digital Repository at the University of Maryland) (1)
- Duke University (2)
- eResearch Archive - Queensland Department of Agriculture; Fisheries and Forestry (12)
- FUNDAJ - Fundação Joaquim Nabuco (1)
- Greenwich Academic Literature Archive - UK (6)
- Helda - Digital Repository of University of Helsinki (11)
- Illinois Digital Environment for Access to Learning and Scholarship Repository (1)
- Indian Institute of Science - Bangalore - Índia (18)
- Instituto Nacional de Saúde de Portugal (1)
- Instituto Politécnico de Bragança (3)
- Instituto Politécnico de Leiria (1)
- Instituto Politécnico do Porto, Portugal (3)
- Massachusetts Institute of Technology (1)
- Memoria Académica - FaHCE, UNLP - Argentina (3)
- Memorial University Research Repository (2)
- National Center for Biotechnology Information - NCBI (16)
- Nottingham eTheses (2)
- Publishing Network for Geoscientific & Environmental Data (29)
- QSpace: Queen's University - Canada (1)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (30)
- Queensland University of Technology - ePrints Archive (350)
- Repositório Científico da Universidade de Évora - Portugal (1)
- Repositório digital da Fundação Getúlio Vargas - FGV (3)
- Repositório do Centro Hospitalar de Lisboa Central, EPE - Centro Hospitalar de Lisboa Central, EPE, Portugal (1)
- Repositório Institucional da Universidade de Aveiro - Portugal (3)
- Repositório Institucional da Universidade Federal do Rio Grande do Norte (1)
- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (47)
- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (3)
- Universidad de Alicante (15)
- Universidad del Rosario, Colombia (2)
- Universidad Politécnica de Madrid (16)
- Universidade de Lisboa - Repositório Aberto (2)
- Universidade Federal do Rio Grande do Norte (UFRN) (2)
- Universitätsbibliothek Kassel, Universität Kassel, Germany (2)
- Université de Lausanne, Switzerland (1)
- Université de Montréal, Canada (7)
- University of Michigan (13)
- University of Queensland eSpace - Australia (7)
- University of Washington (5)
- WestminsterResearch - UK (2)
- Worcester Research and Publications - Worcester Research and Publications - UK (2)
Resumo:
The highly polymorphic fourth component of human complement (C4) is usually encoded by two genes, C4A and C4B, adjacent to the 21-hydroxylase (21-OH) genes and is also remarkable by the high frequency of the null alleles, C4A*Q0 and C4B*Q0. Complete C4 deficiency is exceptional because this condition appears only in homozygotes for the very rare double-null haplotype C4AQ0,BQ0. This condition in most cases gives rise to systemic lupus erythematosus and an increased susceptibility to infections. The molecular basis for complete C4 deficiency has not yet been established. Therefore we studied the DNA of three previously described C4 deficient patients belonging to unrelated families by restriction fragment length polymorphism analysis using C4 and 21-OH probes. These studies revealed a deletion of the C4B and 21-OHA genes in two patients and no deletion at all in the third patient. Therefore, complete C4 deficiency as a result of homozygosity for the C4AQ0, BQ0 haplotype is not a consequence of a deletion of the C4 genes. The molecular basis of this genetic abnormality is certainly very complex and may vary also from one case to another.