Abstract:
:Uterine fibroids (UFs) are the most common benign neoplasms, but their pathogenesis is not completely understood. Thus far, alterations in the mitochondrial DNA (mtDNA) content and the mtDNA 4977-bp deletion level in UFs, as well as the corresponding nontumorous tissue, have remained elusive. To test whether large mtDNA deletions and mtDNA content are involved in the pathogenesis of UFs, a total of 309 UF tissues and 28 paired adjacent myometrium from 270 UF patients were enrolled for the analysis of large mtDNA deletions and mtDNA content through the use of nested PCR and qPCR techniques, respectively. In our samples, a 4977-bp deletion was identified: 36 out of 309 UF tissues (11.56%) and 15 out of 28 (53.57%) paired adjacent myometrium were detected to harbor the 4977-bp deletion. In addition, a novel 4838-bp mtDNA deletion was identified in three UF tissues, and other different sizes of deleted fragments (4910, 4926, 5135-bp) were also found in UFs for the first time. Furthermore, older age was significantly associated with an mtDNA large deletion in the paired adjacent myometrium. We also found that increased mtDNA content and higher expression of ND1 occurred in solitary fibroids compared to adjacent myometrium. In conclusion, we identified a lower frequency of mtDNA large deletions and some novel large deletion in UFs for the first time. Furthermore, there was a general increase of mtDNA copy number during solitary UF development. Although the definite mechanism by which mtDNA was altered is supposed to be further confirmed, it will be helpful for further studies on the pathological mechanism of UFs.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Luo Y,Zou Y,Wu J,Zhang ZY,Liu FY,Li LP,Huang OPdoi
10.1111/ahg.12303subject
Has Abstractpub_date
2019-07-01 00:00:00pages
220-230issue
4eissn
0003-4800issn
1469-1809journal_volume
83pub_type
杂志文章abstract::The segregation of human phosphoglycolate phosphatase has been studied in 52 independent human-rodent hybrids and 69 subclones. The results suggest that human PGP is on chromosome 16. Family data suggest that PGP is not close to 16qh or alpha Hp. The most likely regional assignment for PGP would appear to be 16p13 or ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1980.tb01557.x
更新日期:1980-01-01 00:00:00
abstract::Testing multiple markers simultaneously not only can capture the linkage disequilibrium patterns but also can decrease the number of tests and thus alleviate the multiple-testing penalty. If a gene is associated with a phenotype, subjects with similar genotypes in this gene should also have similar phenotypes. Based o...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2012.00706.x
更新日期:2012-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1984.tb00846.x
更新日期:1984-10-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1989.tb01783.x
更新日期:1989-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2009.00554.x
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1983.tb01001.x
更新日期:1983-10-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2006.00271.x
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abstract::An immunological method for the detection of two thyroxine-binding plasma proteins, thyroxine-binding globulin (TBG) and thyroxine-binding prealbumin (TBPA), following polyacrylamide gel isoelectric focusing is described. Both proteins show complex electrophoretic patterns, attributable to post-translational glycosyla...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1985.tb01701.x
更新日期:1985-10-01 00:00:00
abstract::The genomic DNA-probe L2.30 was used to assign D2S1 to 2p23-pter by in situ hybridization. The RFLP revealed by BglII was then used for linkage studies in the Oslo-NHIK families segregating for the acid phosphatase ACP1 protein polymorphism. Evidence for very close linkage was found by a lod score of +17.17 at recombi...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1986.tb01757.x
更新日期:1986-10-01 00:00:00
abstract::The objectives of this study were to elucidate the genetic basis of human deoxyribonuclease II (DNase II) and to evaluate its usefulness as a genetic and/or diagnostic marker. We have devised a novel, specific and highly sensitive assay method for the urinary and leukocytic enzymes (Yasuda et al. 1991). The distributi...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1992.tb01125.x
更新日期:1992-01-01 00:00:00
abstract::The current challenge in biomedical research is to detect genetic risk factors involved in common complex diseases. The power to detect their role is generally poor in populations that have been large for a long time. It has been suggested that the power may be increased by taking advantage of the specificity of found...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.2000.6430255.x
更新日期:2000-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12096
更新日期:2015-03-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1975.tb00639.x
更新日期:1975-05-01 00:00:00
abstract::Two popular and robust approaches to analysing affected sib pair (ASP) data for linkage are the traditional excess sharing methods and the transmission/disequilibrium test (TDT). Here we derive an overall test of linkage for multi-allelic ASP marker data which comprises two component tests: one for excess sharing and ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.2000.6450419.x
更新日期:2000-09-01 00:00:00
abstract::Peripheral blood from six patients with Huntington's disease (HD) and six controls were cultured in three types of media known to produce fragile sites. A total of 3000 metaphases per group were scrutinized in a blind coded study. No significantly specific 'hot-spot' was found capable of differentiating between HD pat...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1985.tb01704.x
更新日期:1985-10-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2009.00520.x
更新日期:2009-07-01 00:00:00
abstract::Genome-wide association studies have separately identified four single nucleotide polymorphisms (SNPs) on chromosome 9p21 that confer susceptibility to coronary artery disease (CAD) and myocardial infarction (MI). This study presents the first analysis of these SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) i...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2008.00454.x
更新日期:2008-09-01 00:00:00
abstract::Alpha2-HS glycoprotein (AHSG), which is equivalent to fetuin in other species, is a protein found in human plasma. AHSG is polymorphic with two common alleles and many variants. To examine the intragenic haplotypes and their diversity at this locus, a contiguous genomic DNA sequence (10.3 kb) was analyzed in 20 sample...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.2001.6510027.x
更新日期:2001-01-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章,评审
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更新日期:2011-11-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2007.00427.x
更新日期:2008-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1998.6260521.x
更新日期:1998-11-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2010.00588.x
更新日期:2010-07-01 00:00:00
abstract::There is a need for interdisciplinary assessments and interpretations of -omics underpinnings of human complex diseases. However, often investigators from different, yet overlapping, disciplines experience difficulties in understanding the other discipline's language and there is a clear need for establishing a platfo...
journal_title:Annals of human genetics
pub_type:
doi:10.1111/j.1469-1809.2011.00659.x
更新日期:2011-07-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1978.tb00922.x
更新日期:1978-05-01 00:00:00
abstract::Mitochondrial DNA variability in the Polish Roma population has been studied by means of hypervariable segment I and II (HVS I and II) sequencing and restriction fragment-length polymorphism analysis of the mtDNA coding region. The mtDNA haplotypes detected in the Polish Roma fall into the common Eurasian mitochondria...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1529-8817.2005.00222.x
更新日期:2006-03-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12323
更新日期:2019-11-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2012.00738.x
更新日期:2013-01-01 00:00:00
abstract::Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by progressive lower limb spasticity and weakness. Variants in ATL1 have been described mainly in patients with early onset HSP. We performed Sanger seque...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12206
更新日期:2017-11-01 00:00:00
abstract::To identify interacting loci in genetic epidemiological studies the application of multi-locus methods of analysis is warranted. Several more advanced classification methods have been developed in the past years, including multiple logistic regression, sum statistics, logic regression, and the multifactor dimensionali...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2007.00360.x
更新日期:2007-09-01 00:00:00
abstract::The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3. The A...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1976.tb00134.x
更新日期:1976-01-01 00:00:00