[快速鉴定常染色体显性遗传性视网膜色素变性患者有患病风险的父母中先前已鉴定出的突变]
[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa].
作者信息
Souied E, Rozet J M, Gerber S, Munnich A, Kaplan J
机构信息
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, Paris.
出版信息
J Fr Ophtalmol. 1996;19(4):265-70.
PURPOSE
We have previously identified rhodopsin gene mutations in France in autosomal dominant (ADRP) retinitis pigmentosa in France, using a combination of SSCP (single-strand conformation polymorphism) and direct sequence analysis. The aim of this study was to perform a more rapid tool to identify a mutation in a ADRP family, when this mutation has been identified for one affected member of this family.
METHODS
We looked for a restriction site, created or abolished by a mutation in the rhodopsin gene. We performed in vitro DNA amplification using PCR (polymerase chain reaction), enzymatic digestion, and migration on agarose gel.
RESULTS
Abnormal patterns of migration were observed for affected ADRP members.
DISCUSSION
This technique is useful and rapid (less than 5 hours) to recognize a previously identified mutation. However, previous precise identification of the mutation in one member of the family is needed.
目的
我们之前在法国利用单链构象多态性（SSCP）和直接序列分析相结合的方法，在常染色体显性视网膜色素变性（ADRP）患者中鉴定出视紫红质基因突变。本研究的目的是，当已在一个ADRP家系的一名患病成员中鉴定出突变时，开发一种更快速的工具来鉴定该家系中的突变。
方法
我们寻找由视紫红质基因突变产生或消除的限制性酶切位点。我们使用聚合酶链反应（PCR）进行体外DNA扩增、酶切消化，并在琼脂糖凝胶上进行迁移分析。
结果
观察到ADRP患病成员出现异常迁移模式。
讨论
这项技术对于识别先前鉴定出的突变有用且快速（不到5小时）。然而，需要事先在该家系的一名成员中精确鉴定出该突变。
Zotero 插件