Clonal expansion of mixed-lineage leukemia (MLL) rearrangements is highly indicative for acute leukemia. 1-5 Here, we report the unusual finding of an MLL rearrangement in the absence of leukemia. A 5-year-old girl was diagnosed with acute myeloid leukemia (AML) characterized by a variant t(8;21) translocation. The patient achieved remission, and is now, 4 years later, still in ongoing remissio...

Background. Models of ancestral gene order reconstruction have progressively integrated different evolutionary patterns and processes such as unequal gene content, gene duplications, and implicitly sequence evolution via reconciled gene trees. In unicellular organisms, these models have so far ignored lateral gene transfer, even though it can have an important confounding effect on such models,...

Genetic aberrations of the androgen receptor (AR) caused by mutations, rearrangements, and polymorphisms result in a mutant receptor that has varied functions compared to wild type AR. To date, over 1,000 mutations have been reported in the AR with most of these being associated with androgen insensitivity syndrome (AIS). While mutations of AR associated with prostate cancer occur less often in...

Measures of similarities and distances among nucleotide or amino acid sequences have been used to find related regions in long sequences, to test for homology, to assess phylogenetic and functional relationships, and to estimate divergence time between pairs of evolutionarily related sequences. This last use especially invokes a model, possibly implicit and including a random component, of sequ...

A preliminary step to most comparative genomics studies is the annotation of chromosomes as ordered sequences of genes. Different genetic mapping techniques often give rise to different maps with unequal gene content and sets of unordered neighboring genes. Only partial orders can thus be obtained from combining such maps. However, once a total order O is known for a given genome, it can be use...

Drug resistance, a major obstacle to cancer chemotherapy, can be mediated by MDR-1/P-glycoprotein. Deletion of the first 68 residues of MDR-1 in an adriamycin-selected cell line after a 4;7 translocation, t(4q;7q), resulted in a hybrid mRNA containing sequences from both MDR-1 and a novel chromosome 4 gene. Further selection resulted in amplification of a hybrid gene. Expression of the hybrid m...

BACKGROUND Although preliminary reports suggest that ALK gene amplification may occur in inflammatory breast cancer (IBC), data are limited. We performed a comprehensive investigation of the status of ALK gene in IBC. METHODS We used core biopsy (CB) samples from 30 IBC patients for immunohistochemistry (IHC), 25 of these samples for fluorescence in situ hybridization (FISH) of ALK gene rearr...

To determine whether a foreign unrearranged immunoglobulin gene can be functionally rearranged and expressed in vivo, a rabbit b9 kappa light chain gene construct containing a single germ-line kappa chain variable (V) region gene (V kappa), the five kappa chain joining (J) segments (J kappa), and the kappa chain constant (C) region germ-line gene (C kappa) was introduced into fertilized mouse e...

AIM Gene rearrangement has an important role in the management of lymphoma. We investigated the rearrangements of B-cell leukaemia/lymphoma 2 (BCL2), BCL6 and Paired homeobox 5 (PAX5) genes in Indonesian follicular lymphoma (FL) patients. METHODS We examined gene rearrangements using various kinds of polymerase chain reactions (PCRs) on 24 patients' peripheral blood DNA. RESULTS BCL2 rearra...