Ariga T, Sakiyama Y, Matsumoto S
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Hum Genet. 1995 Jul;96(1):6-8. doi: 10.1007/BF00214178.
Molecular genetic studies were carried out on two maternal cousins with X-linked chronic granulomatous disease (X-CGD). Sequencing analysis of polymerase chain reaction (PCR)-amplified DNA fragments from both patients revealed a 15-base pair (bp) insertion associated with a 3-bp deletion in exon 10 of the cytochrome b heavy chain (gp91-phox) gene. Results of genomic PCR with primers flanking the insertion/deletion site confirmed the mutation, and also demonstrated that their mothers were carriers for the disease. Palindromic sequences were found in the 15-bp insertion as well as in the flanking 3-bp deletion site, which may play a role in the mechanism of this mutation.
对两名患有X连锁慢性肉芽肿病（X-CGD）的母系表亲进行了分子遗传学研究。对两名患者聚合酶链反应（PCR）扩增的DNA片段进行测序分析，结果显示在细胞色素b重链（gp91-phox）基因第10外显子中存在一个15碱基对（bp）的插入，并伴有一个3 bp的缺失。用插入/缺失位点两侧的引物进行基因组PCR的结果证实了该突变，同时也表明他们的母亲是该病的携带者。在15 bp的插入片段以及侧翼3 bp的缺失位点中发现了回文序列，这可能在该突变机制中发挥作用。
