Mass spectrometry based trinucleotide repeat sequence detection using target fragment assay

2016 ◽  
Vol 8 (25) ◽  
pp. 5039-5044 ◽  
Author(s):  
Ting Zhang ◽  
Xiang-Cheng Lin ◽  
Hao Tang ◽  
Ru-Qin Yu ◽  
Jian-Hui Jiang
Keyword(s):  
Mass Spectrometry ◽  
Polymerase Chain Reaction ◽  
Trinucleotide Repeat ◽  
Repeat Sequence ◽  
Mass Spectrometry Detection ◽  
Chain Reaction ◽  
Sequence Detection ◽  
Magnetic Capture ◽  
Polymerase Chain ◽  
Acidic Degradation

A novel trinucleotide repeat length assay has been developed using magnetic capture and acidic degradation of target polymerase chain reaction amplicons followed by mass spectrometry detection.

scholarly journals 5′ UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy

Brain ◽  
2020 ◽  
Author(s):  
Jianying Xi ◽  
Xilu Wang ◽  
Dongyue Yue ◽  
Tonghai Dou ◽  
Qunfeng Wu ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Trinucleotide Repeat ◽  
Late Onset ◽  
Age At Onset ◽  
Large Family ◽  
Repeat Expansion ◽  
Chain Reaction ◽  
Cgg Repeat ◽  
Sporadic Cases ◽  
Polymerase Chain

Abstract Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized by ptosis and weakness of the facial, pharyngeal, and distal limb muscles. A recent report suggested a non-coding trinucleotide repeat expansion in LRP12 to be associated with the disease. Here we report a genetic study in a Chinese cohort of 41 patients with the clinical diagnosis of oculopharyngodistal myopathy (21 cases from seven families and 20 sporadic cases). In a large family with 12 affected individuals, combined haplotype and linkage analysis revealed a maximum two-point logarithm of the odds (LOD) score of 3.3 in chromosomal region chr19p13.11-p13.2 and narrowed the candidate region to an interval of 4.5 Mb. Using a comprehensive strategy combining whole-exome sequencing, long-read sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal CGG repeat expansion in the 5′ UTR of the GIPC1 gene that co-segregated with disease. Overall, the repeat expansion in GIPC1 was identified in 51.9% independent pedigrees (4/7 families and 10/20 sporadic cases), while the repeat expansion in LRP12 was only identified in one sporadic case (3.7%) in our cohort. The number of CGG repeats was <30 in controls but >60 in affected individuals. There was a slight correlation between repeat size and the age at onset. Both repeat expansion and retraction were observed during transmission but somatic instability was not evident. These results further support that non-coding CGG repeat expansion plays an essential role in the pathogenesis of oculopharyngodistal myopathy.

scholarly journals Current and emerging assays for Francisella tularensis detection: a review

2008 ◽  
Vol 53 (No. 11) ◽  
pp. 585-594 ◽  
Author(s):  
M. Pohanka ◽  
M. Hubalek ◽  
V. Neubauerova ◽  
A. Macela ◽  
M. Faldyna ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Flow Cytometry ◽  
Polymerase Chain Reaction ◽  
Francisella Tularensis ◽  
Practical Importance ◽  
Pathogenic Bacterium ◽  
Chain Reaction ◽  
Detection And Identification ◽  
The Future ◽  
Polymerase Chain

This paper presents an overview of methods for detection and identification of the pathogenic bacterium <I>Francisella tularensis</I> such as cultivation tests, enzyme-linked immunosorbent assays, flow cytometry, polymerase chain reaction, immunosensor, microarray, mass spectrometry, and chromatography. Included references are chosen according to their practical importance or perspectives for the future.

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