CAJ | 학술논문

目的对一个Alport综合征家系进行研究,期望找到导致该家系发病的遗传基础.方法对家系成员采样并提取DNA,对家系中的先证者和1名正常对照进行COL4A5基因全部编码区域的突变检测,限制性片段长度多态件分析技术对家系中所有成员和200名正常对照进行验证.结果在该Alport综合征家系中发现一个新的COL4A5基因的剪接位点突变c.1517-1G＞T,而在家系的未患病成员,以及对照人群中未能检测到该突变.结论发现了一个新的COL4A5基因的剪接位点改变c.1517-IG＞T,该突变可导致Alport综合征,该发现丰富了引起Alport综合征的COL4A5基因的突变谱.
목적 대일개Alport종합정가계진행연구,기망조도도치해가계발병적유전기출.방법 대가계성원채양병제취DNA,대가계중적선증자화1명정상대조진행COL4A5기인전부편마구역적돌변검측,한제성편단장도다태건분석기술대가계중소유성원화200명정상대조진행험증.결과 재해Alport종합정가계중발현일개신적COL4A5기인적전접위점돌변c.1517-1G＞T,이재가계적미환병성원,이급대조인군중미능검측도해돌변.결론 발현료일개신적COL4A5기인적전접위점개변c.1517-IG＞T,해돌변가도치Alport종합정,해발현봉부료인기Alport종합정적COL4A5기인적돌변보.
Objective To identify the pathogenic mutation in a Chinese family with Alport syndrome.Methods Blood samples were collected from the members of the family.Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of the COL4A5 gene was performed,and restriction fragment length polymorphism (RFLP)analysis was used to confirm the sequencing results and to test the mutation in all the family members and 200 controls.Results A novel splicing mutation of c.1517-1G＞T in the COL4A5 gene was identified in all patients in the family.RFLP analysis did not detect this mutation in all the unaffected family members and the 200 controls.Condusion This data revealed a novel splicing mutation of c.1517-1G＞ T in the COL4A5 gene causing Alport syndrome in a Chinese family.Author's study enriched the spectrum of COL4A5 mutation associated with Alport syndrome.