Biomaterial Database

Ataxia-telangiectasia (group A): localization of ATA gene to chromosome 11q22-23 and pathogenetic implications. 1991

R Gatti

Department of Pathology, UCLA School of Medicine 90024.

Ataxia-telangiectasia (AT) is an autosomal recessive disorder resulting from a single defective gene in each family. Complementation studies suggest that the same syndrome is associated with defects of at least four AT genes (ATA, ATC, ATD and ATE). The syndrome is multifaceted and involves the cerebellum, skin, immunological system, chromosomes, cancer susceptibility, radiosensitivity, premature ageing and serum alphafetoprotein levels. In order to further develop understanding of how these seemingly unrelated physiological systems interact in this disease, we attempted to localize the gene by linkage analysis, using a single large Group A AT family to screen 171 genetic markers and 30 additional AT families to confirm any positive linkages. We found a linkage to AT (Group A) with genetic markers on chromosome 11q22-23. This region of the human genome is syntenic with a large region of the mouse genome on chromosome 9 and includes such "candidate" genes as THY1, NCAM, CD3G-D-3, ets-1, and APOA1-C3-A4. In addition, studies of human chromosomes identify fragile sites in this region as well as breakpoints associated with translocation 4: 11 and 9; 11 in acute non- lymphocytic leukemias. The pathogenetic implications of this localization to 11q22-23 are considered.

UI	MeSH Term	Description	Entries
D008126	Lod Score	The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."	Lod Scores,Score, Lod,Scores, Lod
D008818	Mice, Neurologic Mutants	Mice which carry mutant genes for neurologic defects or abnormalities.	Lurcher Mice,Nervous Mice,Reeler Mice,Staggerer Mice,Weaver Mice,Chakragati Mice,Chakragati Mouse,Lurcher Mouse,Mice, Neurological Mutants,Mouse, Neurologic Mutant,Mouse, Neurological Mutant,Nervous Mouse,Neurologic Mutant Mice,Neurological Mutant Mouse,Reeler Mouse,Staggerer Mouse,Weaver Mouse,ckr Mutant Mice,Mice, Chakragati,Mice, Lurcher,Mice, Nervous,Mice, Neurologic Mutant,Mice, Reeler,Mice, Staggerer,Mice, Weaver,Mice, ckr Mutant,Mouse, Chakragati,Mouse, Lurcher,Mouse, Nervous,Mouse, Reeler,Mouse, Staggerer,Mouse, Weaver,Mutant Mice, Neurologic,Mutant Mice, ckr,Mutant Mouse, Neurologic,Neurologic Mutant Mouse
D008957	Models, Genetic	Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.	Genetic Models,Genetic Model,Model, Genetic
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D011518	Proto-Oncogene Proteins	Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.	Cellular Proto-Oncogene Proteins,c-onc Proteins,Proto Oncogene Proteins, Cellular,Proto-Oncogene Products, Cellular,Cellular Proto Oncogene Proteins,Cellular Proto-Oncogene Products,Proto Oncogene Products, Cellular,Proto Oncogene Proteins,Proto-Oncogene Proteins, Cellular,c onc Proteins
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
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
D002874	Chromosome Mapping	Any method used for determining the location of and relative distances between genes on a chromosome.	Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002880	Chromosomes, Human, Pair 11	A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.	Chromosome 11
D005315	Fetal Diseases	Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.	Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease