Abstract:
BACKGROUND:GSTM1 gene deletion is one of the most known copy number polymorphisms in human genome. It is most likely caused by homologous recombination between the repeats flanking the gene. However, taking into account that the deletion has no crucial effects on human well-being, and the ability of other GSTMs to compensate for the lack of GSTM1, a role for additional factors affecting GSTM1 deletion can be proposed. Our goal was to explore the relationships between GSTM1 deletion polymorphism and single nucleotide polymorphisms (SNPs) in the region of the GSTM cluster that includes GSTM2, GSTM3, GSTM4, and GSTM5 in addition to GSTM1. RESULTS:Real-time polymerase chain reaction was used to quantify the number of GSTM1 copies. Fourteen SNPs from the region were tested and their allelic patterns were compared in groups of Russian individuals subdivided according to their GSTM1 deletion genotypes. Linkage disequilibrium-based haplotype analysis showed substantial differences of haplotype frequencies between the groups, especially between individuals with homozygous GSTM1 -/- and +/+ genotypes. Exploration of the results of phasing of GSTM1 and SNP genotypes revealed unequal segregation of GSTM1 + and - alleles at different haplotypes. CONCLUSIONS:The observed differences in haplotype patterns suggest the potential role of genetic context in GSTM1 deletion frequency (appearance) and in the determination of the deletion-related effects.
journal_name
Mol Cytogenetjournal_title
Molecular cytogeneticsauthors
Khrunin AV,Filippova IN,Aliev AM,Tupitsina TV,Slominsky PA,Limborska SAdoi
10.1186/s13039-016-0241-0subject
Has Abstractpub_date
2016-04-19 00:00:00pages
30issn
1755-8166pii
241journal_volume
9pub_type
杂志文章abstract:BACKGROUND:Chronic myeloid leukemia (CML) is genetically characterized by the occurrence of a reciprocal translocation t(9;22)(q34;q11), resulting in a BCR/ABL gene fusion on the derivative chromosome 22, i.e. the Philadelphia (Ph) chromosome. During CML progression 60-80% of the cases acquire additional genetic change...
journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-014-0089-0
更新日期:2014-11-29 00:00:00
abstract:BACKGROUND:Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorph...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-6-14
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND:Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematological malignancies. In MDS patients with a fibrotic bone marrow the aspiration of cells often fails (dry-tap), which hampers standard karyotyping. Obtaining genetic data from these fibrotic marrows is therefore challenging, and up ti...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-015-0136-5
更新日期:2015-05-28 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-015-0176-x
更新日期:2015-10-01 00:00:00
abstract:BACKGROUND:Rubus is a large and taxonomically complex genus exhibiting agamospermy, polyploidy and frequent hybridization. The objective of this work was to elucidate rDNA disrtibution pattern and investigate genomic composition of polyploids in 16 Rubus taxa (2n = 2x, 3x, 4x, 8x) of two subgenera Idaeobatus and Malach...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
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更新日期:2015-02-03 00:00:00
abstract:UNLABELLED: BACKGROUND:Acute lymphoblastic leukemia (ALL) is a heterogeneous form of hematological cancer consisting of various subtypes. We are interested to study the genetic aberration in precursor B-cell ALL with specific t(12;21) translocation in childhood ALL patients. A high resolution 244K array-based Comparat...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-5-41
更新日期:2012-11-15 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章,评审
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更新日期:2016-01-22 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-019-0434-4
更新日期:2019-05-24 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-6-47
更新日期:2013-10-31 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-2-3
更新日期:2009-01-23 00:00:00
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journal_title:Molecular cytogenetics
pub_type:
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更新日期:2020-04-10 00:00:00
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-020-00513-2
更新日期:2020-09-12 00:00:00
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journal_title:Molecular cytogenetics
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doi:10.1186/s13039-015-0178-8
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-014-0083-6
更新日期:2014-11-19 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-018-0366-4
更新日期:2018-02-05 00:00:00
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-019-0437-1
更新日期:2019-05-27 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-2-1
更新日期:2009-01-07 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-015-0184-x
更新日期:2015-10-24 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-2-18
更新日期:2009-09-26 00:00:00
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/1755-8166-7-7
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-6-48
更新日期:2013-11-05 00:00:00
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-015-0154-3
更新日期:2015-07-15 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-020-00498-y
更新日期:2020-07-08 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-018-0369-1
更新日期:2018-03-09 00:00:00
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-017-0324-6
更新日期:2017-06-14 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-6-43
更新日期:2013-10-16 00:00:00
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journal_title:Molecular cytogenetics
pub_type: 杂志文章
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更新日期:2018-10-19 00:00:00
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-019-0417-5
更新日期:2019-01-31 00:00:00
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-020-00500-7
更新日期:2020-07-23 00:00:00
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journal_title:Molecular cytogenetics
pub_type:
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更新日期:2016-02-25 00:00:00