In 3 patie nts with EVA, fragments covering all exons of PDS gene were analyzed by denature d high productive liquid chromatogram and special exons were sequenced when DHPL C showed abnormal wave patterns of amplicons covering these exons.

• 针对3例大前庭水管综合征的患者,应用变性高效液相色谱技术进行SLC26A4基因的全部外显子筛查,出现异常波形之外显子行序列分析。