Linkage analysis of congenital nuclear cataract and DLAD locus
- VernacularTitle:先天性核性白内障家系DLAD基因的连锁分析
- Author:
Lin-Lin, CHEN
;
Ai-Lan, TANG
;
Xue, ZHANG
;
Jin-Song, ZHANG
- Publication Type:Journal Article
- Keywords:
cataract;
linkage nalysis;
DLAD
- From:
International Eye Science
2005;5(4):625-627
- CountryChina
- Language:Chinese
-
Abstract:
· 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.
