摘要
目的对1例X连锁慢性肉芽肿病(X-CGD)家系进行临床表型和基因突变分析,揭示X- CGD的发病机制。方法根据患儿临床症状、体征及四唑氮蓝试验(NBT)分析诊断,采集家系成员外周血抽提基因组DNA,扩增CYBB基因并检测基因突变。结果①NBT显示,患儿未刺激组、大肠埃希杆菌内毒素刺激组及佛波乙酸酯刺激组中,中性粒细胞NBT还原率为0,患儿母亲的分别为4％,10％,25％,患儿父亲分别为2％,97％,97％,结合患儿临床症状、体征初步确诊为X-CGD;②基因突变分析显示,先证者位于Xp21．1编码NADPH细胞色素b558的gp91phox亚基的CYBB基因第9外显子第949位的碱基由T 突变为A,由此引起编码序列第312个氨基酸错义突变为Met312Lys,患儿母亲及姐姐均存在同位点基因突变,但患儿父亲CYBB基因无突变,证实该错义突变来源于母系。结论 CYBB基因氨基酸错义突变,是引起该家系X-CGD的原因。
Objective The X-linked form of the chronic granulomatous disease （X-CGD） arises from mutations in the CYBB gene, which encodes the 91-KD glycoprotein gp91^phox, the component of flavocytochrome b558. We confirm a X-CGD case recently and explore the mutation of CYBB gene in this family. Methods Clinical features and laboratory data were collected from the pedigree with X-CGD and the proband was hospitalized in Shenzhen Children Hospital. All of the exon and exon-intron boundaries of CYBB gene including proband and 3 family members were analyzed by direct sequencing of PCR product from genomic DNA. Results The patient was diagnosed as X-CGD according to the clinical features and the nitroblue tetrazolium （NBT） test, The sequencing results of the proband revealed 914 T to A in the exon 9 of CYBB gene which caused Met312Lys missing mutation, which was also found in his mother and his sister. Conclusion X-CGD in this family is caused by Met312Lys in the gp91^phox of flavoeytochrome b558 and it is the first reported case in China.
出处
《中华妇幼临床医学杂志（电子版）》
CAS
2006年第3期137-139,共3页
Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)
关键词
X-连锁慢性肉芽肿病
原发性免疫缺陷病
基因突变
遗传
X-linked chronic granulomatous disease
primary immunodefieiency disease
gene mutation
genetic
