scholarly journals Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

Genes ◽  
2019 ◽  
Vol 10 (4) ◽  
pp. 279 ◽  
Author(s):  
Alison Pandelache ◽  
Emma K Baker ◽  
Solange M. Aliaga ◽  
Marta Arpone ◽  
Robin Forbes ◽  
...  
Keyword(s):  
Fragile X ◽  
Chromosomal Microarray ◽  
Full Mutation ◽  
Chain Reaction ◽  
Partial Methylation ◽  
Verbal Iq ◽  
Standard Testing ◽  
Standard Polymerase Chain Reaction ◽  
Polymerase Chain ◽  
Mz Twins

: This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: <44 CGGs), premutation (PM: 55–199 CGG) and full mutation (FM alleles ≥ 200) alleles, with autism. At 4 years of age chromosomal microarray confirmed monozygosity with both twins showing an XY sex complement. Normal size (30 CGG), PM (99 CGG) and FM (388–1632 CGGs) alleles were detected in Twin 1 (T1) by standard polymerase chain reaction (PCR) and Southern blot testing, while only PM (99 CGG) and FM (672–1025) alleles were identified in Twin 2 (T2). At ~5 years, T2 had greater intellectual impairments with a full scale IQ (FSIQ) of 55 and verbal IQ (VIQ) of 59, compared to FSIQ of 62 and VIQ of 78 for T1. This was consistent with the quantitative FMR1 methylation testing, revealing 10% higher methylation at 80% for T2; suggesting that less active unmethylated alleles were present in T2 as compared to T1. AmplideX methylation PCR also identified partial methylation, including an unmethylated NS allele in T2, undetected by standard testing. In conclusion, this report demonstrates significant differences in intellectual functioning between the MZ twins mosaic for NS, PM and FM alleles with partial FMR1 promoter methylation.

Improved sizing of fragile X CCG repeats by nested polymerase chain reaction

1994 ◽  
Vol 51 (4) ◽  
pp. 527-534 ◽  
Author(s):  
Gene Levinson ◽  
Anne Maddalena ◽  
Frances T. Palmer ◽  
Gary L. Harton ◽  
David P. Bick ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Fragile X ◽  
Chain Reaction ◽  
Nested Polymerase Chain Reaction ◽  
Polymerase Chain

Three peaks in the polymerase chain reaction fragile X analysis

2012 ◽  
Vol 19 (3) ◽  
pp. 112-115 ◽  
Author(s):  
Reuven Sharony ◽  
Atalia Shtorch ◽  
Aliza Amiel ◽  
Esther Guetta ◽  
Leah Peleg ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Fragile X ◽  
Chain Reaction ◽  
Polymerase Chain

scholarly journals Agreement Test of Histopathology in the Diagnosis of Extrapulmonary Tuberculosis with Gold Standard Polymerase Chain Reaction Technique: A Step to Overcome False Diagnosis

2021 ◽  
Vol 9 (A) ◽  
pp. 579-582
Author(s):  
Ali Essa Shaker ◽  
Mohammed Abdulmahdi Al Kurtas ◽  
Haider Zalzala
Keyword(s):  
Polymerase Chain Reaction ◽  
Histopathological Examination ◽  
The Body ◽  
Polymerase Chain Reaction Test ◽  
Chain Reaction ◽  
Standard Polymerase Chain Reaction ◽  
Reaction Test ◽  
Polymerase Chain ◽  
Chain Reaction Test ◽  
Good Agreement

BACKGROUND: Tuberculosis (TB) is global health problem which is caused by Mycobacterium tuberculosis (M. tuberculosis) bacteria. One-quarter of the world’s populations is infected by M. tuberculosis and only 10–15% of those develop the disease, while the remaining 85–95% of the population are carrying the bacteria and cannot transmit the disease to the others. M. tuberculosis bacteria affects the lungs, but any organ in the body can be affected by the bacteria. About 15% of M. tuberculosis infections are of in the extrapulmonary type. The diagnosis of extrapulmonary TB (EPTB) is very challenging because most sites are inaccessible and paucibacillary nature of the bacteria in these sites. The need for rapid and more sensitive and specific tests for the diagnosis of EPTB in comparison to culture and histopathology is increasing. The molecular methods for the detection of M. tuberculosis gene(s) in the provided sample are now promising. PATIENT AND METHODS: A cross-sectional descriptive study at AL-Kindy Teaching Hospital at Al-Resaffa part of Baghdad city, Iraq. Data collection has been done in three months duration (July, August, and September) 2015. A total of 74 formalin-fixed paraffin-embedded samples from suspected EPTB cases was collected, both Polymerase Chain reaction test for M. tuberculosis and histopathological examination was done for each sample. RESULTS: A total of 74 patients (18 males, 56 females), mean age 29.72 suspected to had extrapulmonary TB underwent biopsies from different tissue types. The biopsies from the 74 patients were taken from different tissues according to the site of lesion, 49 (66.2%) biopsies were taken from lymph node, 12 biopsies (16.2%) was taken from mass in the axilla, 6 (8.1%) from abscess, 4 (5.4%) from the intestine, 3 (4.1%) from fistula. Of the 74 studied patients 57 (77%) showed positive polymerase chain reaction (PCR) and 17 (23%) showed negative PCR results. Regarding to the histopathological reports of the biopsies, there were 54 (73%) patients had positive histopathological (granuloma) result and 20 (27%) patients had negative results (nongranuloma). The sensitivity of histopathological examination of the biopsies was 91.02%, the specificity 88.2%, and the kappa was 0.748 (p = 0.00) which is mean good agreement between histopathological examination of the biopsies and the polymerase chain reaction test. CONCLUSIONS: The sensitivity, specificity, and the positive predictive value of histopathology examination of biopsies were 91.02%, 88.2%, and 96%, respectively. The kappa was 0.748 (p = 0.00) which is mean good agreement between histopathological examination of the biopsies and the polymerase chain reaction test.

Real-time isothermal DNA amplification monitoring in picoliter volumes using an optical fiber sensor

Lab on a Chip ◽  
2021 ◽  
Author(s):  
Monika Janik ◽  
Seyed Vahid Hamidi ◽  
Marcin Koba ◽  
Jonathan Perreault ◽  
Ryan Walsh ◽  
...  
Keyword(s):  
Gold Standard ◽  
Rolling Circle Amplification ◽  
Optical Fiber Sensor ◽  
Dna Amplification ◽  
Fiber Sensor ◽  
Test Results ◽  
Chain Reaction ◽  
Rolling Circle ◽  
Standard Polymerase Chain Reaction ◽  
Polymerase Chain

Rolling circle amplification (RCA) of DNA can be considered as a great alternative to the gold standard polymerase chain reaction (PCR), where rapid, sensitive, and reliable test results are required.

scholarly journals Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Charles H. Hensel ◽  
Rena J. Vanzo ◽  
Megan M. Martin ◽  
Ling Ling ◽  
Solange M. Aliaga ◽  
...  
Keyword(s):  
Dna Methylation ◽  
General Population ◽  
Fragile X Syndrome ◽  
Diagnostic Yield ◽  
Fragile X ◽  
Grey Zone ◽  
Full Mutation ◽  
Standard Testing ◽  
Sample Pooling ◽  
Positive Controls

Abstract In 2016, Methylation-Specific Quantitative Melt Analysis (MS-QMA) on 3,340 male probands increased diagnostic yield from 1.60% to 1.84% for fragile X syndrome (FXS) using a pooling approach. In this study probands from Lineagen (UT, U.S.A.) of both sexes were screened using MS-QMA without sample pooling. The cohorts included: (i) 279 probands with no FXS full mutation (FM: CGG > 200) detected by AmplideX CGG sizing; (ii) 374 negative and 47 positive controls. MS-QMA sensitivity and specificity in controls approached 100% for both sexes. For male probands with no FM detected by standard testing (n = 189), MS-QMA identified abnormal DNA methylation (mDNA) in 4% normal size (NS: < 44 CGGs), 6% grey zone (CGG 45–54) and 12% premutation (CGG 54–199) alleles. The abnormal mDNA was confirmed by AmplideX methylation sensitive (m)PCR and EpiTYPER tests. In contrast, no abnormal mDNA was detected in 89 males with NS alleles from the general population. For females, 11% of 43 probands with NS alleles by the AmplideX sizing assay had abnormal mDNA by MS-QMA, with FM / NS mosaicism confirmed by AmplideX mPCR. FMR1 MS-QMA analysis can cost-effectively screen probands of both sexes for methylation and FM mosaicism that may be missed by standard testing.

A Novel Polymorphism in the FMR1 Gene: Implications for Clinical Testing of Fragile X Syndrome

2008 ◽  
Vol 132 (1) ◽  
pp. 95-98
Author(s):  
Bharat Thyagarajan ◽  
Matthew Bower ◽  
Michael Berger ◽  
Sidney Jones ◽  
Michelle Dolan ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Southern Blot ◽  
Trinucleotide Repeat ◽  
Fragile X ◽  
Fmr1 Gene ◽  
Chain Reaction ◽  
Cgg Repeat ◽  
Polymerase Chain

Abstract Fragile X syndrome is the most common cause of inherited mental retardation among males. In most cases, the molecular basis of fragile X syndrome is the expansion and subsequent methylation of a CGG trinucleotide repeat in the 5′ untranslated region of the fragile X mental retardation 1 (FMR1) gene. Laboratory diagnosis usually relies on a combination of Southern blot and polymerase chain reaction analyses. In this case report we describe an unusual Southern blot result in a patient who presented with developmental delay and had a normal CGG repeat number by polymerase chain reaction analysis. Further investigation revealed a novel G3310C transversion in the FMR1 gene resulting in a new recognition site for the BssHII restriction enzyme. This novel restriction site could potentially mimic a partial deletion of the FMR1 gene on Southern blot analysis and thus represents a possible pitfall in the diagnosis of fragile X syndrome.

Predominance of canine parvovirus type 2b in dogs of Ulaanbaatar City

2015 ◽  
Vol 15 (2) ◽  
pp. 71-74
Author(s):  
Sh Tumenjargal ◽  
Ts Ariunaa ◽  
L Ganbayar ◽  
G Otgontuya ◽  
B Chimedtseren ◽  
...  
Keyword(s):  
Viral Evolution ◽  
Canine Parvovirus ◽  
Chain Reaction ◽  
Viral Dna ◽  
Fatal Disease ◽  
Phylogenetic Studies ◽  
Standard Polymerase Chain Reaction ◽  
Polymerase Chain ◽  
Hemorrhagic Enteritis ◽  
Primer Sets

Canine parvovirus is a highly contagious virus that causes fatal disease acute hemorrhagic enteritis and myocarditis in dogs. The aim of this work is to detect canine parvovirus 2 (CPV-2) by standard polymerase chain reaction (PCR). Viral DNA was isolated from faecel samples of 36 puppies with suspicious symptoms for parvovirus infection and used as template in standard PCR. 23 samples wereof CPV-2b serotype, 9 samples of CPV-2a serotype but 4 samples were neither 2b and nor 2a. We used two different primer sets, one specific both serotypes CPV-2a and CPV-2b and one specific only for CPV-2b. This allowed us to differentiate serotypes from each other. The further extension of this work will be essential for the epidemiology, viral evolution and phylogenetic studies of the mongolian domestic canine, cats and wild carnivores.Mongolian Journal of Agricultural Sciences Vol.15(2) 2015; 71-74

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