Evidences showing wide presence of small genomic aberrations in chronic lymphocytic leukemia

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Blank Evidences showing wide presence of small genomic aberrations in chronic

lymphocytic leukemia.

YC Kim, YC Jung, J Chen, AH Alhasan, P Kaewsaard, Y Zhang, S Ma, S Rosen, and SM

Wang

BMC Res Notes, December 20, 2010; 3(1): 341.

ABSTRACT:

BACKGROUND: Chronic lymphocytic leukemia (CLL) is the most common adult leukemia

in the western population. Although genetic factors are considered to contribute

to CLL etiology, at present genomic aberrations identified in CLL are limited

compared with those identified in other types of leukemia, which raises the

question of the degree of genetic influence on CLL. We performed a

high-resolution genome scanning study to address this issue.

FINDINGS: Using the restriction paired-end-based Ditag Genome Scanning

technique, we analyzed three primary CLL samples at a kilobase resolution, and

further validated the results in eight primary CLL samples including the two

used for ditag collection. From 51,632 paired-end tags commonly detected in the

three CLL samples representing 5% of the HindIII restriction fragments in the

genomes, we identified 230 paired-end tags that were present in all three CLL

genomes but not in multiple normal human genome reference sequences. Mapping the

full-length sequences of the fragments detected by these unmapped tags in seven

additional CLL samples confirmed that these are the genomic aberrations caused

by small insertions and deletions, and base changes spreading across coding and

non-coding regions.

CONCLUSIONS: Our study identified hundreds of loci with insertion, deletion,

base change, and restriction site polymorphism present in both coding and

non-coding regions in CLL genomes, indicating the wide presence of small genomic

aberrations in chronic lymphocytic leukemia. Our study supports the use of a

whole genome sequencing approach for comprehensively decoding the CLL genome for

better understanding of the genetic defects in CLL.

PMID: 21172017