We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
GLOBE SCIENTIFIC, LLC

BIO-RAD LABORATORIES

Provides full range of instrumentation, reagent kits, software and quality control systems to clinical laboratories. ... read more Featured Products: More products

Download Mobile App




Droplet Digital PCR Rapidly Detects Alpha-Thalassemia Variants

By LabMedica International staff writers
Posted on 24 Aug 2016
Alpha (α)-thalassemia is a highly prevalent genetic disease worldwide and it is characterized by various degrees of alpha globin chain deficit caused by either deletional or non-deletional mutations although the former are more common.

Recently, there have been more reported cases of rare α-thalassemia mutations due to the advancement of molecular techniques involved in thalassemia detections. More...
Therefore, it is essential to develop a new method, which allows the detection of different α-thalassemia mutations including the rare ones simultaneously and accurately.

Scientists at the University Putra Malaysia (Serdang, Malaysia) designed an assay for the detection of triplications, common and rare deletional α-thalassemia using droplet digital PCR (ddPCR). Eleven archived DNA samples with known genotypes and one DNA sample with heterozygous deletion spanning from HS-40 region to alpha1 globin region were used in the study.

Four copy number variations (CNV) assays were carried out in duplications for each sample, which includes the upstream alpha globin regulatory element HS- 40, Hemoglobin, alpha 2 (HBA2), HBA3.7 and HBA1 genes. A total of 20 µL of each polymerase chain reaction (PCR) mixture was loaded into a sample well of a DG8TM Cartridge for QX100 Droplet Generator (Bio-Rad Laboratories, Hercules, CA, USA), followed by 70 µL of droplet generation oil into the oil wells. After the thermal cycling process, the sealed 96-well plate was placed in the Bio-Rad QX100 Droplet Digital Reader.

The team found that found that the use of ddPCR is convenient as it allows direct quantification without the requirement of a calibration curve unlike quantitative PCR. They showed that showed that ddPCR is accurate and precise in the detection of alpha thalassemia deletions and triplications based on the gene dosages using absolute quantification. Twelve samples with different α-thalassemia deletions at different regions located at HS-40 to HBA1 and triplications of α-globin genes were detected accurately. The investigators also showed that ddPCR saves time with less turnaround time and minimize the labor work required as compared to other techniques. The study was published in the August 2016 issue of the International Journal of Laboratory Hematology.

Related Links:
University Putra Malaysia
Bio-Rad Laboratories

New
Gold Member
Quality Control Material
iPLEX Pro Exome QC Panel
Serological Pipet Controller
PIPETBOY GENIUS
New
Staining System
RAL DIFF-QUIK
New
Automated PCR System
OnePCR
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








Channels

Immunology

view channel
Image: A simple blood test could replace surgical biopsies for early detecion of heart transplant rejection (Photo courtesy of Shutterstock)

Blood Test Detects Organ Rejection in Heart Transplant Patients

Following a heart transplant, patients are required to undergo surgical biopsies so that physicians can assess the possibility of organ rejection. Rejection happens when the recipient’s immune system identifies... Read more

Pathology

view channel
These images illustrate how precision oncology Organ Chips recapitulate individual patients’ responses to chemotherapy (Photo courtesy of Wyss Institute at Harvard University)

Cancer Chip Accurately Predicts Patient-Specific Chemotherapy Response

Esophageal adenocarcinoma (EAC), one of the two primary types of esophageal cancer, ranks as the sixth leading cause of cancer-related deaths worldwide and currently lacks effective targeted therapies.... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.