Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome

摘要

Recently, we reported on two female subjects with X-linked Alport syndrome (XLAS) whose genetic test findings were negative by the direct sequencing method [1]. However, we could detect their large heterozygous deletion mutations with the semi-quantitative polymerase chain reaction (PCR) method, which we frequently use these days because the technique is very simple, consisting of PCR and capillary electrophoresis [1-3]. On the other hand, this method needs sophisticated equipment for capillary electrophoresis, and every exon analysis must be conducted separately.