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中文摘要：
目的 检测常染色体隐性遗传大前庭水管综合征（LVAS）家系SLC26A4基因中IVS7-2A〉G和2168A〉G的突变情况，探讨耳聋患者的发病原因。方法收集耳聋家系的临床资料，应用耳聋基因芯片对患者进行分子病因学研究。对4个家系的4例患者及12例家系成员进行IVS7—2A〉G和2168A〉G基因突变检测。结果2例患者发生SLC26A4IVS7-2A〉G纯合突变型，2例患者发生发生SLC26A4IVS7-2A〉G和2168A〉G复合杂合突变型；4个家系中发现SLC26A4IVS7-2A〉G基因突变型，3个家系中发现SLC26A4IVs7-2A〉G纯合突变型，包括1例合并GJB2235delC杂合性突变型。结论常染色体隐性遗传LVAS患者的SLC26A4IVS7-2A〉G纯合性突变与复合杂合突变发生率较高。
英文摘要：
Objective To detect the SLC26A4 IVS7-2A 〉 G and 2168 A 〉 G gene mutation in families associated with large vestibular aqueduct syndrome, for the purpose of understanding etiology of hearing loss and providing appropriate genetic counseling. Methods Clinical data of four pedigrees were collected. Peripheral blood samples from large vestibular aqueduet syndrome patients were collected and extracted from DNA genomes. The coding regions of SLC26A4 were amplified by PCR and the deafness gene chip was used to detect the mutations of the pathogenic gene which were most commonly observed in patients with large vestibular aqueduct syndrome. Results Two patients with SLC26A4 IVS7-2A 〉 G homozygous mutant and two patients with SLC26A4 IVS7-2A 〉 G and 2168 A 〉 G compound heterozygous mutant occurred. SLC26A4 IVS7-2A 〉 G gene mutation was detected in four pedigrees. SLC26A4 IVS7-2A 〉 G homozygous mutation was found in three pedigrees,including one patient with GJB2 235delc heterozygous mutation. Conclusion There is a high incidence of SLC26A4 IVS7-2A〉 G homozygous mutations and compound heterozygous mutant in large vestibular aqueduct syndrome autosomal recessive patients.
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