CHARACTERIZATION OF MOLECULAR DEFECTS IN X-LINKED AMELOGENESIS IMPERFECTA (AIH1)

被引:96
作者
LENCH, NJ
WINTER, GB
机构
[1] ST JAMESS UNIV HOSP, MOLEC MED UNIT, LEEDS LS2 9LU, W YORKSHIRE, ENGLAND
[2] UCL EASTMAN DENT HOSP, INST DENT SURG, DEPT CHILDRENS DENT, LONDON WC1X 8LD, ENGLAND
关键词
X-LINKED AMELOGENESIS IMPERFECTA; PCR; SSCP; MUTATION;
D O I
10.1002/humu.1380050310
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Amelogenins are an heterogenous family of proteins produced by ameloblasts of the enamel organ during tooth development. Disturbances of enamel formation occur in amelogenesis imperfecta, a clinically heterogenous group of inherited disorders characterised by defective enamel biomineralisation. An amelogenin gene, AMGX, has been mapped to the short of the X chromosome (Xp22.1-p22.3) and has been implicated in the molecular pathology of X-linked amelogenesis imperfecta (AIH1). We have identified three families exhibiting AIH1 and screened the AMGX gene for mutations using single-strand conformational polymorphism analysis and DNA sequencing. Three novel mutations were identified: a C-T substitution in exon 5, and a G-T substitution and single cytosine deletion in exon 6, confirming the existence of extensive allelic heterogeneity in this condition. The identification of family-specific mutations will enable early identification of affected individuals and correlation of clinical phenotype with genotype will facilitate an objective system of disease classification. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:251 / 259
页数:9
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