Search results for "Chromosome 21"
showing 6 items of 16 documents
Genetics of Polyglandular Failure
2016
The rare autoimmune polyglandular failure syndromes (APS) comprise a juvenile (APS1) and an adult type (APS2 and 3). APS1 is caused by mutations in the autoimmune regulatory (AIRE) gene on chromosome 21 and is inherited in an autosomal recessive manner. Mutations in the AIRE gene impair self-tolerance and result in defect proteins causing autoimmune destruction of target organs. Genetic testing identifies patients with APS1. For APS2/3 disease susceptibility genes are the human leucocyte antigen on chromosome 6, the cytotoxic T lymphocyte antigen (chromosome 2), the protein tyrosine phosphatase nonreceptor type 22 (chromosome 1), the forkhead box P3 (X chromosome), and the interleukin-2 rec…
Plasticity of human chromosome 3 during primate evolution.
2004
Comparative mapping of more than 100 region-specific clones from human chromosome 3 in Bornean and Sumatran orangutans, siamang gibbon, and Old and New World monkeys allowed us to reconstruct ancestral simian and hominoid chromosomes. A single paracentric inversion derives chromosome 1 of the Old World monkey Presbytis cristata from the simian ancestor. In the New World monkey Callithrix geoffroyi and siamang, the ancestor diverged on multiple chromosomes, through utilizing different breakpoints. One shared and two independent inversions derive Bornean orangutan 2 and human 3, implying that neither Bornean orangutans nor humans have conserved the ancestral chromosome form. The inversions, f…
Genetics of Polyglandular Failure
2010
Publisher Summary This chapter discusses the genetic aspects of polyglandular failure syndromes (APS).The polyglandular failure syndromes comprise of a wide spectrum of autoimmune disorders and encompass a rare juvenile type (APS1) and more frequent adult types (APS2 and APS3). The juvenile type APS1 is also known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy because it consists of three main disorders, namely chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and autoimmune Addison's disease. APS2 is defined as the association between Addison's disease and either autoimmune thyroid disease or type 1 diabetes mellitus and APS3 is characterized by the presen…
Genomic structure and paralogous regions of the inversion breakpoint occurring between human chromosome 3p12.3 and orangutan chromosome 2.
2003
Intrachromosomal duplications play a significant role in human genome pathology and evolution. To better understand the molecular basis of evolutionary chromosome rearrangements, we performed molecular cytogenetic and sequence analyses of the breakpoint region that distinguishes human chromosome 3p12.3 and orangutan chromosome 2. FISH with region-specific BAC clones demonstrated that the breakpoint-flanking sequences are duplicated intrachromosomally on orangutan 2 and human 3q21 as well as at many pericentromeric and subtelomeric sites throughout the genomes. Breakage and rearrangement of the human 3p12.3-homologous region in the orangutan lineage were associated with a partial loss of dup…
Amplification of ETS2 oncogene in acute nonlymphoblastic leukemia with t(6;21;18).
1992
Cytogenetic and molecular studies in a case of acute nonlymphoblastic leukemia (ANLL) are reported in this paper. Bone marrow blasts carried a hypodiploid karyotype with a complex t(6;18;21)(6qter----6p21::21q22----21qter;18qter ----18p11::6p22----6pter; 21pter----21q22::6p21----6p22::18p11----18pte r) and other numerical and structural changes. We studied the organization and the expression of the ETS2 gene which is located on chromosome 21 in order to investigate its possible involvement in the disease. DNA analysis showed a 20-fold amplification of ETS2 sequences; an increase of 3- to 4-fold in the mRNAs level compared to normal was shown by Northern hybridization.
Differential metabolic profiling of non-pure trisomy 21 human preimplantation embryos.
2012
Objective To investigate the metabolomic signature of trisomy 21 preimplantation human embryos by a noninvasive approach using mass spectrometry– (MS-) and nuclear magnetic resonance spectroscopy– (NMR-) based metabolic profiling platforms. Design A total of 171 spent media samples were collected from day 3 embryos and comparatively analyzed by MS analysis (chromosomally normal embryos, n=15; trisomy 21 embryos, n=15) and a matched control media group (without embryo, n=14) and by NMR spectroscopy (normal embryos, n=39; trisomy 21 embryos, n=35; monosomy 21 embryos, n=24) and a matched control media group (without embryo, n=29). Setting IVF clinic/preimplantation genetic diagnosis (PGD) uni…