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Mutation analysis of the DNA-damage checkpoint gene CHK2 in myelodysplastic syndromes and acute myeloid leukemias.

Abstract：

:Checkpoint genes code for a family of proteins which sense DNA damage in eukaryotic cells. They play an important role in the control of the cell cycle. The human CHK2 is a homolog of the yeast G(2) checkpoint kinases known as CDS1 and RAD53. The CHK2 may be a tumor suppressor gene because it was found to be mutated in some individuals with the Li-Fraumeni syndrome. These cases had a normal, non-mutated p53 gene. We performed a mutational analysis of the CHK2 gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) in 41 bone marrow samples from individuals with myelodysplastic syndrome (MDS) and 41 samples of acute myeloid leukemias (AML). We found a novel G to C transversion resulting in a change from Ala to Gly at codon 507 of CHK2 in one MDS sample, but normal cells from this individual did not have the abnormality. In addition, we demonstrated a previously described polymorphism at codon 84 (A to G at nucleotide 252) of exon 1 of CHK2 in three of 41 MDS and three of 41 AML patients. The presence of a CHK2 mutation in MDS highlights the importance of alterations of cell cycle checkpoint genes in this disease.

journal_name

Leuk Res

journal_title

Leukemia research

authors

Hofmann WK,Miller CW,Tsukasaki K,Tavor S,Ikezoe T,Hoelzer D,Takeuchi S,Koeffler HP

doi

10.1016/s0145-2126(00)00130-2

keywords:

subject

Has Abstract

pub_date

2001-04-01 00:00:00

pages

333-8

issue

4

eissn

0145-2126

issn

1873-5835

pii

S0145-2126(00)00130-2

journal_volume

25

pub_type

杂志文章

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