T-cell receptor genes and ataxia telangiectasia
نویسندگان
چکیده
منابع مشابه
Hybrid T Cell Receptor Genes Formed by Interlocus Recombination in Normal and Ataxia-telangiectasia Lymphocytes
In this paper, using polymerase chain reaction (PCR), we demonstrated the occurrence of hybrid genes formed by interlocus recombination between T cell receptor y (TCR--y) variable (V) regions and TCR-f3joining (J) regions in the peripheral blood lymphocytes (PBL) from normal individuals and patients with ataxia-telangiectasia (AT) . Sequence analysis of the PCR-derived hybrid genes confirmed th...
متن کاملInversion of Chromosome 7 in Ataxia Telangiectasia Is Generated by a Rearrangement Between T - Cell Receptor 9 and T - Cell Receptor y Genes
Specific and recurrent chromosomal rearrangements are often observed in the karyotypes of phytohemagglutininstimulated lymphocytes. The percentage of cells demonstrating these rearrangements is dramatically increased in the genetic disease ataxia telangiectasia. Inversion of chromosome 7 represents approximately half of the chromosomal rearrangements in this disease. Because the chromosomal loc...
متن کاملPhospho-SMC1 in-Cell ELISA based Detection of Ataxia Telangiectasia
BackgroundAtaxia telangiectasia (A-T) is a common genetically inherited cause of early childhood-onset ataxia. The infrequency of this disease, vast phenotype variation, disorders with features similar to those of A-T, and lack of definite laboratory test, make diagnosis difficult. In addition, there is no rapid reliable laboratory method for identifying A-T heterozygotes, who susceptible to i...
متن کاملAtaxia-telangiectasia
Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...
متن کاملAtaxia-telangiectasia.
Ataxia-telangiectasia is a complex syndrome that includes a very high cancer risk in children with a progressive cerebellar ataxia, the onset of which occurs in early infancy. Ocular telangiectasiae often do not appear until several years after the ataxia. The most common type of malignancy is lymphoma, usually of the B-cell type. Leukemias also occur. Failure to diagnose ataxia-telangiectasia ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature
سال: 1985
ISSN: 0028-0836,1476-4687
DOI: 10.1038/313186a0