Topic
Chromosome 21
About: Chromosome 21 is a research topic. Over the lifetime, 4736 publications have been published within this topic receiving 206655 citations. The topic is also known as: chr21 & Homo sapiens chromosome 21.
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TL;DR: It is estimated that individuals with DS have a 10-fold to 20-fold increased risk of both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) developing, compared with children without DS, and DS is the most common genetic disorder linked to the development of leukemia.
Abstract: Approximately 20 years after one of the first medical descriptions of leukemia by Zirchow (1), Dr. Langdon Down in 1866 published his study “Observations on an Ethnic Classification of Idiots,” describing the characteristic features of a syndrome linking his name to the genetic disorder now known as Down syndrome (DS) (2). The first description of leukemia in a child with DS was reported in 1930 (3); subsequent case reports suggested that individuals with DS had an increased incidence of leukemia, which was confirmed by a national survey reported by Krivit and Good in 1957 (4). In 1959, Dr. Lejeune was the first to identify that the genetic defect in DS was caused by the presence of three copies of chromosome 21 (trisomy 21) (5). It is now estimated that individuals with DS have a 10-fold to 20-fold increased risk of both acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) developing, compared with children without DS, and DS is the most common genetic disorder linked to the development of leukemia (6– 8). A recent case control study concluded that the increased risk for leukemia developing in children with DS was greater for AML (OR 76.80) compared with ALL (OR 4.85) (8). Interestingly, in contrast to leukemia, individuals with DS have a decreased risk of solid tumors developing, such as neuroblastoma, Wilms tumor, and breast cancer, highlighting the unique association of leukemia and DS (9–12).
54 citations
TL;DR: A panel of 54 mouse/human somatic cell hybrids was constructed, each possessing various portions of chromosome 16, and a cytogenetic-based physical map of this chromosome with an average resolution of 1.6 Mb was generated, which will provide the basis for the cloning of genetically mapped disease genes, genes disrupted in cytogenetics rearrangements that have produced abnormal phenotypes, and cancer breakpoints.
54 citations
54 citations
TL;DR: Examination for abnormalities of the murine homologues of the IL8R genes should be considered in mice affected by mutations of this locus, because this region of chromosome 2q is homologous to proximal mouse chromosome 1 in the segment containing the Lsh-Ity-Bcg locus involved in mediating host resistance to infection with intracellular pathogens.
54 citations
TL;DR: Reporter-gene assays showed that the marker D21S0012m in the promoter region and the SNP rs13046884 in the intron of NLC1-A significantly affected expression levels, and NLC 1-A is considered to be a new resistance gene for human narcolepsy.
Abstract: Human narcolepsy is a hypersomnia that is affected by multiple genetic and environmental factors. One genetic factor strongly associated with narcolepsy is the HLA-DRB1*1501-DQB1*0602 haplotype in the human leukocyte antigen region on chromosome 6, whereas the other genetic factors are not clear. To discover additional candidate regions for susceptibility or resistance to human narcolepsy, we performed a genomewide association study, using 23,244 microsatellite markers. Two rounds of screening with the use of pooled DNAs yielded 96 microsatellite markers (including 16 markers on chromosome 6) with significantly different estimated frequencies in case and control pools. Markers not located on chromosome 6 were evaluated by the individual typing of 95 cases and 95 controls; 30 markers still showed significant associations. A strong association was displayed by a marker on chromosome 21 (21q22.3). The surrounding region was subjected to high-density association mapping with 14 additional microsatellite markers and 74 SNPs. One microsatellite marker (D21S0012m) and two SNPs (rs13048981 and rs13046884) showed strong associations (P
54 citations