Abstract:
AIM:Molecular diagnosis of fragile X syndrome demands assessment of fragile X mental retardation 1 (FMR1) CGG repeat size and methylation status, while predicting disease transmission risk requires determination of AGG interruption pattern. There is currently no single assay that provides all three categories of information. We describe a single-tube methylation-specific triplet-primed PCR assay for concurrently assessing methylation state, repeat size and structure of CGG repeat(s). METHODS:Differentially labeled primers specific for methylated and unmethylated FMR1 alleles were used to amplify bisulfite-modified DNA, followed by capillary electrophoresis. Twenty-four reference DNAs and 107 patient samples were analyzed to evaluate assay performance. RESULTS:Repeat size, AGG interruption pattern and methylation state were correctly identified in all tested samples. The assay also detected skewed X-inactivation when present in females, and somatic mosaicism in fragile X males. CONCLUSION:When used in a molecular diagnostic setting, this novel assay could significantly minimize the need to reflex patient samples for Southern analysis.
journal_name
Expert Rev Mol Diagnjournal_title
Expert review of molecular diagnosticsauthors
Rajan-Babu IS,Teo CR,Lian M,Lee CG,Law HY,Chong SSdoi
10.1586/14737159.2015.1001749subject
Has Abstractpub_date
2015-03-01 00:00:00pages
431-41issue
3eissn
1473-7159issn
1744-8352journal_volume
15pub_type
杂志文章abstract::There is great interest in the development of noninvasive methods for imaging angiogenic responses. Strategies for assessing angiogenesis have primarily relied on measuring perfusion-related characteristics, such as total blood flow or microvascular volume, or detecting abnormal vascular permeability. Techniques are n...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 历史文章,杂志文章
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1091729
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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更新日期:2009-10-01 00:00:00
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.1.2.153
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1063420
更新日期:2015-01-01 00:00:00
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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更新日期:2004-07-01 00:00:00
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2018.1415145
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.3.1.13
更新日期:2003-01-01 00:00:00
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 社论
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1310619
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2018.1546579
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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更新日期:2017-08-01 00:00:00
abstract::A successful biodefense strategy relies upon any combination of four approaches. A nation can protect its troops and citizenry first by advanced mass vaccination, second, by responsive ring vaccination, and third, by post-exposure therapeutic treatment (including vaccine therapies). Finally, protection can be achieved...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1586/14737159.4.6.779
更新日期:2004-11-01 00:00:00
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
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