CAJ | 학술논문

目的筛查KIF21A基因在先天性眼外肌广泛纤维化综合征(CFEOM)患者中的突变特点.方法对结构较大的CFEOM家系连锁定位后进行候选基因序列分析,对结构较小的家系采用直接测序方法对KIF21A基因进行突变研究.结果在9个CFEOM先证者和7名散发患者中,发现共有14个患者KIF21A基因外显子21发生突变,突变类型为R954W和R954Q.结论 KIF21A基因是眼外肌广泛纤维化的致病基因,位于外显子21的CpG岛是KIF21A基因的突变热点.
목적 사사KIF21A기인재선천성안외기엄범섬유화종합정(CFEOM)환자중적돌변특점.방법대결구교대적CFEOM가계련쇄정위후진행후선기인서렬분석,대결구교소적가계채용직접측서방법대KIF21A기인진행돌변연구.결과 재9개CFEOM선증자화7명산발환자중,발현공유14개환자KIF21A기인외현자21발생돌변,돌변류형위R954W화R954Q.결론 KIF21A기인시안외기엄범섬유화적치병기인,위우외현자21적CpG도시KIF21A기인적돌변열점.
Objective Screening KIF21A gene mutation in 9 families with congenital fibrosis of extraocular muscles and 7 sporadic cases.Methods Families were ascertained and patients underwent complete ophthalmological examinations.The probands of 9 families with CFEOM and 7 sporadic patients were recruited for this study after informed consent.Genomic DNA was isolated from 5 ml peripheral blood samples according to the standard methods.Direct sequencing was performed after PCR amplification to genomic DNA for detection of KIF21A gene mutation.Results We identified heterozygous KIF21A mutations in 14 of sixteen patients.Twelve of them harbor the most common mutation,c.2860C＞T (p.R954W) and two of them harbor the second most common mutation,c2861G ＞ A(p.R954Q).The R954 mutations account for 87.5％ (14/16),in which 75％ (12/16) are R954W,12.5％ (2/16) are R954Q.Conclusion The R954 mutations are also hotspots in Chinese patients with CFEOM.