CAJ | 학술논문

目的:为进一步确定DLAD基因缺陷与人类白内障发生的关系.方法:对6个先天性白内障家系进行临床遗传学分析,然后进行连锁分析.结果:D1 S551和D1 S3471(GATA65B07)引物两点LOD值均为负值.结论:该6个家系的先天性白内障的发生与DLAD基因缺陷无关.
목적:위진일보학정DLAD기인결함여인류백내장발생적관계.방법:대6개선천성백내장가계진행림상유전학분석,연후진행련쇄분석.결과:D1 S551화D1 S3471(GATA65B07)인물량점LOD치균위부치.결론:해6개가계적선천성백내장적발생여DLAD기인결함무관.
· AIM: DLAD (DnaseII-like acid Dnase) is an acid DNase that is highly expressed in human and murine lens fibre cells. Recently, the DLAD-/- mice with a deficience in DLAD gene were reported to develop nuclear cataract.To elucidate whether a deficient DLAD gene can cause some human cataract, we studied autosomal dominant nuclear catarat in 6 families and analysed linkage between cataract and DLAD locus.·METHODS: Two-point Lod score values were obtained for markers D1S551 and GATA65B07.· RESULTS: The results show negative Lod scores (z=-∞ at θ =0), so linkage was excluded between the defect and DLAD locus in these families.·CONCLUSION: no evidence for cataracts in these families linkage to chromosome 1p22.3, the DLAD locus.