نتایج جستجو برای: q35
تعداد نتایج: 269 فیلتر نتایج به سال:
Isolation of region-specific cosmids from chromosome 5 by hybridization with microdissection clones.
A method is described for the isolation of chromosome region specific cosmids. The 5q35 region of the long arm of human chromosome 5 was microdissected, digested with MboI, ligated to oligonucleotide adaptors, amplified by the polymerase chain reaction and cloned into a plasmid vector. Inserts which did not contain highly repetitive sequences were used to screen a chromosome 5 cosmid library by...
The t(5;14)(q35;q32) chromosomal translocation is specifically observed in up to 20% of childhood T-cell acute lymphoblastic leukemia (T-ALL). It affects the BCL11B/CTIP2 locus on chromosome 14 and the RANBP17-TLX3/HOX11L2 region on chromosome 5. It leads to ectopic activation of TLX3/HOX11L2. To investigate the reasons of the association between t(5;14) and T-ALL, we isolated the translocation...
Fusion genes: Ewing sarcoma: t(11;22)(q24;q12) EWS-FLI1 t(21;22)(q22;q12) EWS-ERG t(7;22)(p22;q12) EWS-ETV1 others FUS-ERG, EWS-FEV, Desmoplastic SRCT: t(11;22)(p13;q12) EWS-WT1 Extraskel myxoid chondrosarc: t(19;22)(q22;q12) EWS-TEC(CHN) Malignant mesenchymoma: t(11;22)(q24;q12) EWS-FLI1 Alveolar rhabdomyosarcoma: t(2;13)(q35;q14) PAX3-FKHR t(1;13)(p36;q14) PAX7-FKHR Myxoid round cell liposarc...
The TCLI oncogene on human chromosome 14q32.1 is involved in chromosome translocations [t(14;14)(qll;q32.1) and t(7;14)(q35;q32.1)1 and inversions [inv14(qll;q32.1)] with TCRaIP loci in T-cell leukemias, such as T-prolymphocytic (T-PLL). It is also involved in T-acute and -chronic leukemias arising in cases of ataxia-telangiectasia (AT), an immunodeficiency syndrome. Similar chromosomal rea...
The discovery by Morris et al. (1994) of the genes contributing to the t(2;5)(p23;q35) translocation has laid the foundation for a molecular based recognition of anaplastic large cell lymphoma and highlighted the need for a further stratification of T-cell neoplasia. Likewise the detection of anaplastic lymphoma kinase (ALK) genetic lesions among many human cancers has defined unique subsets of...
Although the t(2;13)(q35;q14) translocation has been found in most cases of the pediatric cancer alveolar rhabdomyosarcoma, several cases have been reported with a variant t(1;13)(p36;q14) translocation. Our findings indicate that this t(1;13) rearranges PAX7 on chromosome 1 and fuses it to FKHR on chromosome 13. This fusion results in a chimeric transcript consisting of 5' PAX7 and 3' FKHR reg...
While evaluating a new antibody Ki-1 directed against an epitope on Reed-Sternberg cells, Harald Stein, Karl Lennert and others in Kiel, West Germany recognized a unique lymphoma composed of pleomorphic large cells with strong expression of the antigen detected by the Ki-1 antibody (now designated as CD30). This “Ki-1 lymphoma” had a prominent sinus growth pattern and was previously misdiagnose...
یک دختر 29 ساله، با ناهنجاری های متعدد ظاهری، شامل قد کوتاه، پرده گردنی و عقب ماندگی ذهنی خفیف تا متوسط، به مرکز تحقیقات ژنتیک ارجاع داده شد. پدر و مادر خویشاوند بودند. مادر سابقه دو بار سقط داشت و یک پسر خانواده نیز در 12 سالگی فوت شده بود. این فرزند دارای علائمی مشابه پروباند و نیز مشکلات قلبی مادرزادی بود. خانواده دارای یک پسر 27 ساله سالم نیز بودند. بیمار، همانند مادر و برادر سالم، دارای جا...
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