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

页码：135 / 137

页数：3

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