with the replacement of A1298C wild-type reverse primer with A1298C mutant reverse primer, which had the following sequence: 5 -GGTAAAGAACAAAGACTTCAAAGACACTGTG-3 (Sigma-Aldrich). ARMS PCR conditions were 95 °C for 5 min; 40 cycles of 95 °C for 30 s, 57 °C for 30 s, and 72 °C for 30 s; and 72 °C for 5 min. The wild-type reaction produces a 120-bp product, whereas the mutant reaction produces a 1...

In IMpassion050 (NCT03726879), adding atezolizumab (A) to neoadjuvant chemotherapy (CT) and pertuzumab–trastuzumab (PH) did not increase pathological complete response (pCR) vs placebo (Pl), CT PH in patients (pts) with high-risk, HER2-positive (+) early breast cancer (EBC) either the intention-to-treat or PD-L1+ populations. Additional BM data are warranted better inform future immunotherapeut...

AIMS An abnormality in the glycated haemoglobin peak (Hb A1c) on Diastat (Bio-Rad) cation exchange low pressure liquid chromatography (LPLC) was found in three Punjabi patients with diabetes. The aims of this study were to identify the variant by chromatography and electrophoresis and to determine whether a DNA analysis test could be designed for confirmation that could be generally applied for...

BACKGROUND A significant role of Renin-angiotensin system (RAS) genetic variants in the pathogenesis of essential hypertension and cardiovascular diseases has been proved. This study aimed to develop a new, fast and cheap method for the simultaneous detection of two missense single nucleotide polymorphisms (T207M or rs4762 and M268T orrs699) of angiotensinogen (AGT) in single-step Multiplex Hex...

BACKGROUND Wilson disease is a rare disorder of copper metabolism due to mutation in ATP7B gene. Proper counseling of patients with Wilson disease, and their families necessitates finding mutation in ATP7B gene. Finding mutations in ATP7B gene with 21 exons, and more than 500 mutations is expensive and time-consuming. OBJECTIVES The aim of this study was to provide a simple multiplex amplific...

BACKGROUND A beta-hemoglobin variant (beta 126 (H4) Val-->Gly) was reported from Thailand and Naples (Southern Italy) as Hb Dhonburi (1) and Hb Neapolis (2), respectively. This abnormal hemoglobin, resulting from a valine to glycine substitution in the contact region between alpha and beta subunits, gives rise to instability at non-physiological conditions. However, it was difficult to distingu...

BackgroundIt has been confirmed that the connective tissue growth factor (CTGF) gene rs9402373 polymorphism is associated with fibrotic and inflammatory diseases. However, studies on relationship between polymorphisms in CTGF bowel disease (IBD) remain rare. Therefore, aim of this study was to assess association IBD susceptibility a Chinese population.Materials methodsTo establish an amplificat...

Purpose ß-thalassemia is a hereditary disorder due to mutation in the ß-globin gene on chromosome 11. Out of 200 known chain mutations recognized, it better identify most common specific regions and ethnicity for cost-effective molecular diagnosis this disorder. Therefore, study aims practice multiplex-amplification refractory system (ARMS) PCR patients with thalassemia Khyber Pakhtunkhwa (KP) ...

a peak within 1–2 °C of the predicted T m. This allows T m peaks, which indicate the presence or absence of a PCR product, to be strategically placed within the typical melting curve range of 45–70 °C for hybridization probes. Over this melting curve range we feel it should be possible to clearly distinguish three peaks in a single channel. This potentially makes it possible to multiplex six mu...