The cis-configuration effects of rare chromosomal fragile sites. 1990

G B Côté
Genetics Division, Institute of Child Health, Athens, Greece.

Rare chromosomal fragile sites may adversely affect specific alleles of closely linked genes when in cis-configuration. This is illustrated by data published in Sutherland & Hecht (1985) on chromosome 16 at band q22.1.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002873 Chromosome Fragility Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations. Chromosomal Fragility,Fragility, Chromosomal,Fragility, Chromosome
D002885 Chromosomes, Human, Pair 16 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 16
D003434 Crossing Over, Genetic The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes. Crossing Over,Crossing-Over, Genetic,Crossing Overs,Genetic Crossing Over,Genetic Crossing-Over
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D043283 Chromosome Fragile Sites Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.) Fragile Sites, Chromosome,Chromosome Fragile Site,Fragile Site, Chromosome,Site, Chromosome Fragile,Sites, Chromosome Fragile

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