Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2
نویسندگان
چکیده
منابع مشابه
Clustering of Translocation Breakpoints
Translocation, a physical movement of genetic material from one chromosome to another, can aberrantly juxtapose portions of two cellular genes. This type of fusion may disrupt cellular function by producing novel, biologically-active fused genes, or by the activation of normally quiescent growth-associated genes. Either of these mechanisms provides a putative oncogenic stimulus and, indeed, sev...
متن کاملMapping translocation breakpoints by next-generation sequencing.
Balanced chromosome rearrangements (BCRs) can cause genetic diseases by disrupting or inactivating specific genes, and the characterization of breakpoints in disease-associated BCRs has been instrumental in the molecular elucidation of a wide variety of genetic disorders. However, mapping chromosome breakpoints using traditional methods, such as in situ hybridization with fluorescent dye-labele...
متن کاملMolecular cloning of the breakpoints of a complex Philadelphia chromosome translocation: identification of a repeated region on chromosome 17.
Complex translocations in chronic myelogenous leukemia involve various chromosomes, in addition to chromosomes 9 and 22, in a nonrandom fashion. We have analyzed the DNA from leukemia cells characterized by a complex translocation, t(9;22;10;17)(q34;q11;p13;q21), by using the techniques of Southern blot hybridization, in situ hybridization, and molecular cloning; one of the breakpoints is at 17...
متن کاملTranslocation breakpoints are clustered on both chromosome 8 and chromosome 21 in the t(8;21) of acute myeloid leukemia.
The t(8;21)(q22;q22) is consistently associated with acute myeloid leukemia (AML) M2. Recent data have suggested that breakpoints on chromosome 21 are clustered within a single intron of a novel gene, AML1, just downstream of a region of homology to the runt gene of D melanogaster. In this report, we confirm rearrangement at the same location in at least 12 of 18 patients with t(8;21). Furtherm...
متن کاملClustering of breakpoints on chromosome 10 in acute T-cell leukemias with the t(10;14) chromosome translocation.
The T-cell receptor (TCR) alpha/delta chain locus on chromosome 14q11 is nonrandomly involved in translocations and inversions in human T-cell neoplasms. We have analyzed three acute T-lymphoblastic leukemia samples carrying a t(10;14)(q24;q11) chromosome translocation by means of somatic cell hybrids and molecular cloning. In all cases studied the translocation splits the TCR delta chain locus...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2009
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2009.2