CAJ | 학술논문

目的对一个先天性无虹膜家系进行致病基因研究.方法采集患者外周静脉血,提取基因组DNA.采用微卫星标记物D11S904和D11S935对1个先天性无虹膜家系进行连锁分析;采用直接测序对PAX6基因全部14个外显子,以及外显子内含子拼接部进行序列分析.结果在微卫星位点D11S904获得LOD值为3.01.该家系患者PAX6基因第9外显子检出R240X突变,而家系正常人以及100名正常对照无此基因突变.结论 R240X再发突变是导致先天性无虹膜的突变热点.
목적 대일개선천성무홍막가계진행치병기인연구.방법 채집환자외주정맥혈,제취기인조DNA.채용미위성표기물D11S904화D11S935대1개선천성무홍막가계진행련쇄분석;채용직접측서대PAX6기인전부14개외현자,이급외현자내함자병접부진행서렬분석.결과 재미위성위점D11S904획득LOD치위3.01.해가계환자PAX6기인제9외현자검출R240X돌변,이가계정상인이급100명정상대조무차기인돌변.결론 R240X재발돌변시도치선천성무홍막적돌변열점.
Objective To study the PAX6 gene mutation in a Chinese pedigree with congenital aniridia. Methods Linkage analysis was performed to the Chinese family with congenital aniridia using two microsatellite markers D11S904 and D11S935. Analysis of the PAX6 gene mutation was done by direct sequencing of the whole coding region and exon-intron boundaries of the PAX6 gene in all affected and unaffected individuals in the family. Results The significant Lod Score of 3.01 was acquired at D11S935.Direct DNA sequence analysis identified a 1080C to T change in exon 9 of the patients, resulting in an Arginine substitution by a stop codon at codon 240 of the PAX6 gene, which was absent in the unaffected individuals in the family and 100 normal controls. Conclusion Our results indicate that mutation p.Arg240Ter of the PAX6 is the genetic basis of the Chinese family with congenital aniridia.