眼脑肾综合征一家系调查及OCRL基因突变分析

Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe

摘要:

眼脑肾综合征是一种X连锁隐性遗传病。该研究对一个眼脑肾综合征家系进行病史调查，并应用DNA直接测序技术对致病候选基因OCRL进行分析。在家系患者OCRL基因第15号外显子发现了1736号碱基A/G突变，导致该基因氨基酸第507号由组氨酸（H）变为精氨酸（R），即发生了OCRL基因H507R错义突变。患者母亲为X染色体突变基因杂合子携带者。该研究发现的OCRL基因H507R突变在国内属首次报道。

Abstract:

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder. This study investigated the history of a Chinese family with OCRL and used direct DNA sequencing to screen all exons of OCRL gene for mutations. A missense mutation (1736 A→G) in exon 15 was revealed, which resulted in the change of His (H) 507 to Arg (R). The patient's mother was the carrier of the heterozygous mutation in X-chromosome. To our knowledge, H507R mutation in OCRL gene has not been reported in Chinese people.