Document Detail

Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q.
MedLine Citation:
PMID:  9022927     Owner:  NLM     Status:  MEDLINE    
Amelogenesis imperfecta (AI) is a group of hereditary enamel defects, characterized by large clinical diversity. On the basis of differences in clinical manifestation and inheritance pattern, 14 different subtypes have been recognized. A locus for autosomal dominant AI (ADAI) of local hypoplastic type was recently mapped to the region between D4S392 and D4S395 on the long arm of chromosome 4. To test whether the chromosome 4 locus is responsible for other forms of AI as well, a linkage study was carried out with 17 families representing at least five clinical forms of ADAI. Admixture tests for heterogeneity performed with the marker D4S2456 gave statistical support for genetic heterogeneity of ADAI with the odds 78:1. Linkage to the ADAI locus on chromosome 4q (AIH2) could only be demonstrated with families expressing the local hypoplastic type, and there was no support for heterogeneity within that group of families. Furthermore, linkage could be excluded for five families with other clinical forms of ADAI. The data therefore demonstrated that ADAI is genetically heterogeneous, and that at least two loci for it exist.
C Kärrman; B Bäckman; G Holmgren; K Forsman
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Archives of oral biology     Volume:  41     ISSN:  0003-9969     ISO Abbreviation:  Arch. Oral Biol.     Publication Date:    1996 Aug-Sep
Date Detail:
Created Date:  1997-04-14     Completed Date:  1997-04-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0116711     Medline TA:  Arch Oral Biol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  893-900     Citation Subset:  D; IM    
Department of Clinical Genetics, University Hospital, Umeå, Sweden.
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MeSH Terms
Amelogenesis Imperfecta / classification,  genetics*
Chi-Square Distribution
Chromosomes, Human, Pair 4 / genetics*
Dental Enamel Proteins / genetics
Genes, Dominant
Genetic Heterogeneity
Linkage (Genetics)
Lod Score
X Chromosome / genetics
Reg. No./Substance:
0/Amelogenin; 0/Dental Enamel Proteins

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