Development of a multiplex allele-specific PCR assay for rapid screening of Lactoferrin TATA box polymorphisms

2012 ◽  
Vol 22 (6) ◽  
pp. 1241-1244
Author(s):  
Reza Valadan ◽  
Hassan Sharifiyazdi ◽  
Abdolah Mirzaei ◽  
Keshvad Hedayatian
Keyword(s):  
Tata Box ◽  
Rapid Screening ◽  
Pcr Assay ◽  
Specific Pcr ◽  
Allele Specific ◽  
Specific Pcr Assay ◽  
Allele Specific Pcr

scholarly journals WASP: a Web-based Allele-Specific PCR assay designing tool for detecting SNPs and mutations

BMC Genomics ◽  
2007 ◽  
Vol 8 (1) ◽  
pp. 275 ◽  
Author(s):  
Pongsakorn Wangkumhang ◽  
Kridsadakorn Chaichoompu ◽  
Chumpol Ngamphiw ◽  
Uttapong Ruangrit ◽  
Juntima Chanprasert ◽  
...  
Keyword(s):  
Pcr Assay ◽  
Web Based ◽  
Specific Pcr ◽  
Allele Specific ◽  
Specific Pcr Assay ◽  
Allele Specific Pcr

scholarly journals Sensitive Allele-Specific PCR Assay Able to Detect FGFR3 Mutations in Tumors and Urine from Patients with Urothelial Cell Carcinoma of the Bladder

2005 ◽  
Vol 51 (8) ◽  
pp. 1555-1557 ◽  
Author(s):  
Ashraf A Bakkar ◽  
Viviane Quach ◽  
Anaïg Le Borgne ◽  
Marianne Toublanc ◽  
Dominique Henin ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Urothelial Cell Carcinoma ◽  
Pcr Assay ◽  
Specific Pcr ◽  
Allele Specific ◽  
Specific Pcr Assay ◽  
Carcinoma Of The Bladder ◽  
Sensitive Allele ◽  
Allele Specific Pcr ◽  
Fgfr3 Mutations

Multiplex allele-specific PCR assay for differential diagnosis of Hb S, Hb D-Punjab and Hb Tak

2004 ◽  
Vol 343 (1-2) ◽  
pp. 129-134 ◽  
Author(s):  
Kanokwan Sanchaisuriya ◽  
Sunisa Chunpanich ◽  
Goonnapa Fucharoen ◽  
Supan Fucharoen
Keyword(s):  
Differential Diagnosis ◽  
Pcr Assay ◽  
Specific Pcr ◽  
Allele Specific ◽  
Hb S ◽  
Specific Pcr Assay ◽  
Allele Specific Pcr

Detection of the MYD88 L265P mutation in Waldenström’s macroglobulinemia using a highly sensitive allele-specific PCR assay.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 8042-8042
Author(s):  
Lian Xu ◽  
Zachary R Hunter ◽  
Guang Yang ◽  
Yang Cao ◽  
Xia Liu ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Sanger Sequencing ◽  
Pcr Assay ◽  
Specific Pcr ◽  
Allele Specific ◽  
Myd88 L265p Mutation ◽  
Specific Pcr Assay ◽  
Allele Specific Pcr ◽  
Waldenström's Macroglobulinemia ◽  
Myd88 L265p

8042 Background: Waldenström’s macroglobulinemia (WM) is a B-cell malignancy characterized by bone marrow (BM) infiltration with lymphoplasmacytic cells and production of an IgM paraprotein. By whole genome sequencing, we recently identified a somatic mutation (L265P) in the MYD88 gene in 27/30 (90%) WM patients (Treon et al, ASH 2011). To expand this finding for possible diagnostic testing, we developed an allele-specific PCR assay for MYD88 L265P and evaluated this assay in a large cohort of WM patients. Methods: An allele-specific PCR assay was developed with a threshold of detection of 0.125% for MYD88 L265P. DNA from bone marrow aspirates from 99 patients with the clinicopathological diagnosis of WM was used for assessment of MYD88 L265P expression by both allele-specific PCR and Sanger sequencing. Findings were correlated with clinical parameters using ANOVA. Results: We observed that 85/99 (86%) WM patients were positive for MYD88 L265P using the allele-specific PCR assay. Of the 85 allele-specific PCR positive patients, 81 demonstrated a detectable mutation peak by Sanger sequencing. All 14 allele-specific PCR negative patients remained negative by Sanger sequencing. By the allele-specific PCR assay, MYD88 L265P positive patients showed greater bone marrow involvement, higher serum IgM and lower serum IgA and IgG levels versus MYD88 L265P negative patients (p<0.008). Conclusions: MYD88 L265P is highly expressed in BM samples of WM patients using an allele-specific PCR assay, and is associated with greater bone marrow disease burden and serum IgM levels. Use of allele-specific PCR provides a simple and sensitive diagnostic tool for detection of the MYD88 L265P mutation.

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