Zhang Yan-qin, Zhao Dan, Yu Li-xia, Ding Jie, Wang Fang
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Zhonghua Yi Xue Za Zhi. 2012 Oct 30;92(40):2825-9.
To explore the application of multiplex ligation-dependent probe amplification (MLPA) in the gene diagnosis of X-linked Alport syndrome (XLAS).
MLPA was used to detect and confirm large deletion mutations in COL4A5 gene in 3 XLAS patients with deletion mutation from cDNA.
Patient 1 had a deletion from exons 22 to 24 in COL4A5 gene, patient 2 a deletion of exon 30 in COL4A5 gene and patient 3 a deletion of exons 1 and 2 in COL4A5 gene and exons 1 and 2 in COL4A6 gene. All these mutations were detected by reverse transcription-polymerase chain reaction (RT-PCR) and MLPA coincidently.
As a new method for gene diagnosis of XLAS, MLPA can be used to detect large deletion mutations in COL4A5 gene.
探讨多重连接依赖探针扩增技术（MLPA）在X连锁遗传性肾炎（XLAS）基因诊断中的应用。
应用MLPA技术检测并证实3例经cDNA检测存在缺失突变的XLAS患者COL4A5基因的大片段缺失突变。
患者1的COL4A5基因第22至24外显子缺失，患者2的COL4A5基因第30外显子缺失，患者3的COL4A5基因第1和2外显子及COL4A6基因第1和2外显子缺失。所有这些突变均经逆转录-聚合酶链反应（RT-PCR）和MLPA同时检测到。
MLPA作为XLAS基因诊断的一种新方法，可用于检测COL4A5基因的大片段缺失突变。
