DNA diagnosis of X-linked amelogenesis imperfecta (AIH1)

被引：7
作者：
Lench, NJ [1 ]
Brook, AH [1 ]
机构：
[1] SCH CLIN DENT,DEPT CHILD DENT HLTH,SHEFFIELD,S YORKSHIRE,ENGLAND
来源：
JOURNAL OF ORAL PATHOLOGY & MEDICINE | 1997年 / 26卷 / 03期
关键词：
AIH1; amelogenesis imperfecta; DNA sequencing; SSCP analysis; XAI;
D O I：
10.1111/j.1600-0714.1997.tb00036.x
中图分类号：
R78 [口腔科学];
学科分类号：
1003 ;
摘要：
Mutations in the amelogenin gene, AMGX, are known to cause X-linked amelogenesis imperfecta (AIH1). We have used DNA single-strand conformational polymorphism analysis and DNA sequencing to diagnose this disorder unequivocally in two related boys aged 3 and 7 years, respectively, from a family in which an existing mutation in the amelogenin gene is segregating.
引用
收藏
页码：135 / 137
页数：3
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