BACKGROUND Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder characterized by the weakness of facial, shoulder-girdle and upper arm muscles. Most patients with FSHD have fewer numbers of tandem repeated 3.3-kb KpnI units on chromosome 4q35. Chromosome 10q26 contains highly homologous KpnI repeats, and inter-chromosomal translocation has been reported. METHODS To ...

Background: Most of our current understanding of the biological effects of exposure to ionising radiation is based on conventional cytogenetic techniques, which enable us to determine the relationship between chromosomal aberration and dose received by radiation workers. However, conventional techniques have numerous limitations and chromosomal aberrations can be easily missed. Since FISH plays...

Chronic myeloid leukemia (CML) was the first human malignancy shown to be consistently associated with a chromosomal abnormality, the Philadelphia chromosome (Nowell and Hungerford, 1960). At the gene level, the Philadelphia chromosome is the result of breaks on chromosomes 9 and 22 with a reciprocal translocation of the distal genetic material (Rowley, 1973). This translocation transposes the ...

The FtsK translocase pumps dsDNA directionally at ∼5 kb/s and facilitates chromosome unlinking by activating XerCD site-specific recombination at dif, located in the replication terminus of the Escherichia coli chromosome. We show directly that the γ regulatory subdomain of FtsK activates XerD catalytic activity to generate Holliday junction intermediates that can then be resolved by XerC. Furt...

The structural maintenance of chromosomes (SMC) complex plays an important role in chromosome organization and segregation in most living organisms. In Caulobacter crescentus, SMC is required to align the left and the right arms of the chromosome that run in parallel down the long axis of the cell. However, the mechanism of SMC-mediated alignment of chromosomal arms remains elusive. Here, using...

introduction: reverse transcriptase-polymerase chain reaction (rt-pcr) assay is a useful tool for the detection of fusion transcript resulting from specific chromosomal translocation of the leukemia cells. a specific chromosomal abnormality, the philadelphia chromosome (ph), is present in 90% to 95% of cml patients.the aberration results from a reciprocal translocation between chromosome 9 and ...

Chronic myelogenous leukemia (CML) is characterized by the Philadelphia (Ph) chromosome created by the reciprocal translocation t(9:22)(q34;q11), resulting in the chimeric gene breakpoint cluster region (BCR)-Abelson (ABL). Variant Ph chromosome translocations involving chromosomes other than 9 and 22 occur in 5-10% of CML cases. In the present study, a novel case of a Ph chromosome-positive CM...

A reciprocal translocation between the long arm of the Y chromosome and the long arm of chromosome 1 was observed in an infertile man with non-obstructive azoospermia. The study was performed using a combination of techniques: immunocytogenetic analysis, which allows the detection of synaptonemal complexes (SCs) and recombination sites (MLH1) simultaneously, and fluorescence in-situ hybridizati...