Abstract:
:The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the frequency of del(GJB6-D13S1830) in the GJB6 gene in 58 unrelated patients with nonsyndromic hearing loss from Croatia. About 44.8% of our patients presented with mutation in the GJB2 gene. We identified seven sequence variations. Six of them had previously been reported as disease related (35delG, W24X, V37I, L90P, 313del14, and IVS1 + 1G > A), and we report here for the first time one novel variant, -24A > C. We detected the greatest frequency of 35delG allele compared to the other alleles (35.3%). Allelic frequencies of other common mutations accounted for 2.6-0.9% of analyzed chromosomes. Neither GJB6 deletion nor copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes were found. The 35delG/35delG genotype was associated with severe to profound hearing loss in 94% of 35delG homozygotes. High mutation rate (44%) indicates that testing of the GJB2 gene will clarify the genetic cause in almost half of the cases of recessive nonsyndromic hearing loss in Croatia.
journal_name
Genet Test Mol Biomarkersjournal_title
Genetic testing and molecular biomarkersauthors
Sansović I,Knezević J,Musani V,Seeman P,Barisić I,Pavelić Jdoi
10.1089/gtmb.2009.0073subject
Has Abstractpub_date
2009-10-01 00:00:00pages
693-9issue
5eissn
1945-0265issn
1945-0257journal_volume
13pub_type
杂志文章abstract:: Aim: The aim of this study was to report a novel POU Class 3 Homeobox 4 (POU3F4) variant and to provide further guidance on genetic counseling for incomplete partition (IP) type III families in the Korean population by showing two new contrasting cases in terms of genotype...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2018.0296
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journal_title:Genetic testing and molecular biomarkers
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0214
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journal_title:Genetic testing and molecular biomarkers
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doi:10.1089/gtmb.2017.0207
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abstract::Matrix metalloproteinases (MMPs) are a family of enzymes that degrade extracellular matrix components and are involved in the development and progression of cancer. Lung cancer is the most commonly diagnosed cancer in Lebanon. This study was undertaken to investigate the association between -1171(5A>6A) polymorphism i...
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0024
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journal_title:Genetic testing and molecular biomarkers
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journal_title:Genetic testing and molecular biomarkers
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doi:10.1089/gtmb.2019.0259
更新日期:2020-10-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
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doi:10.1089/gtmb.2017.0146
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2018.0131
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0077
更新日期:2014-09-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2012.0169
更新日期:2012-11-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0037
更新日期:2009-12-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
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doi:10.1089/gtmb.2014.0260
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pub_type: 杂志文章
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0100
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1089/gtmb.2014.0195
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2008.0128
更新日期:2009-04-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章,评审
doi:10.1089/gtmb.2011.0292
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:Epigenetic alterations in the global DNA methylation status may be associated with an increased risk of some cancer types in humans. The methylenetetrahydrofolate reductase (MTHFR) gene is involved in folic acid metabolism and plays an essential role in inherited DNA methylation profiles. The common 677 C>T ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
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更新日期:2012-07-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0112
更新日期:2012-01-01 00:00:00
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
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journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2019.0022
更新日期:2019-08-01 00:00:00