目的　探讨Alport 综合征COL4A3 基因突变谱。方法　采用目的基因富集高通量测序技术，检测1 例Alport 综合征患儿、父母及2 个妹妹的COL4A3 基因Exon27、Exon48，对发现的变异基因位点进一步以PCR 扩增直接正反向测序验证。结果　检测COL4A3 基因发现2 个新的剪接位点改变，c.1928-2A>T 杂合变异；Exon48：c.4280G>T(p.G1427V) 杂合变异，该突变可导致Alport 综合征。结论　发现Alport 综合征Ⅳ型胶原a3 链的COL4A3 基因的新突变，该发现丰富了引起Alport 综合征的COL4A3 基因的突变谱。

Objective　To explore COL4A3 gene mutation spectrum in autosomal recessive Alport syndrome. Methods The Exon 27 and Exon 48 of COL4A3 gene were sequenced by high-throughput DNA sequencing method in one child with Alport syndrome, her parents, and two sisters. The detected mutations were checked by PCR based Sanger DNA sequencing method. Results　Two heterozygous splicing mutations, c.1928-2A>T in Exon 48 and c.4280G>T (p.G1427V), were found, which could lead to Alport syndrome. Conclusions　New mutations of COL4A3 gene were found, which enriched the mutation spectrum of COL4A3 of Alport syndrome.