Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments.

Background: The aim of this study was to establish a sensitive method that can detect the presence of not only the common but also the unusual or unknown α-globin gene deletions for screening of α-thalassemia. We used quantitative multiplex PCR of short fluorescent fragments (QMPSF) for the α-globin genes (HBA) to screen α-thalassemia deletions.

Methods: We set up and validated HBA-QMPSF using 50 negative and 100 positive controls of deletional α-thalassemia.

[Study on clinical manifestation, genotype and genetic characteristics of two Kennedy disease pedigrees].

Objective: To investigate the clinical manifestations, genotypes, and genetic characteristics of two pedigrees with Kennedy disease.

Methods: The clinical data of the patients from two Kennedy disease families were collected. The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis.