Diagnostic Pitfall in PCR-Based [alpha]-Thalassemia Genotyping Resulting from a (G[arrow right]C) Polymorphism at Nucleotide 71 3' to the [alpha]2-Globin Gene Termination Codon

From: Clinical Chemistry | Date: March 1, 2006| Author: Chui, David H K; Et al; Luo, Hong-Yuan; Wang, Wen; Chan, Amy Yuk-Yin | Copyright information

To the Editor:

α-Thalassemia is commonly diagnosed by PCR-based molecular methods, such as gap-PCR for deletional α-thalassemia (1) and minisequencing (SNaPshot(TM) system) for nondeletional α-globin gene mutations (2). However, "allele dropout" in the PCR amplification process can lead to erroneous results. We describe 3 individuals from 2 unrelated families in whom a hitherto unknown G[arrow right]C single-nucleotide polymorphism (SNP) in the α^sub 2^-globin gene ...

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