Document Detail

Allelic homogeneity in Avellino corneal dystrophy due to a founder effect.
MedLine Citation:
PMID:  17096061     Owner:  NLM     Status:  MEDLINE    
Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene. There are distinct phenotypes of homozygous Avellino corneal dystrophy, termed types I and II. To investigate if the difference is caused by a modifier mutation, we sequenced the entire coding region of TGFBI of two types of ACDs. The sequences obtained from each type were identical, and we could not find any nucleotide alternations. Instead, we found seven single nucleotide polymorphisms (SNPs) compared with the normal control. Primer extension analysis revealed that all 14 homozygous patients were homozygotes in each SNP, which meant that all the patients shared the same disease haplotype. Subsequent analysis of 45 heterozygous ACD patients showed strong linkage disequilibrium between disease alleles of each SNP and ACD. These results strongly suggest that the allelic homogeneity of TGFBI associated corneal dystrophies (ACD, lattice corneal dystrophy types I and III, granular corneal dystrophy and Reis-Bucklers dystrophy) might not be caused by mutation hot spots but by the founder effects.
Kaoru Tsujikawa; Motokazu Tsujikawa; Hitoshi Watanabe; Naoyuki Maeda; Yoshitsugu Inoue; Takashi Fujikado; Yasuo Tano
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-11-10
Journal Detail:
Title:  Journal of human genetics     Volume:  52     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2007  
Date Detail:
Created Date:  2006-12-15     Completed Date:  2007-03-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  92-7     Citation Subset:  IM    
Department of Ophthalmology, Osaka University Medical School, 2-2 Yamadaoka Suita, Osaka, Japan.
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MeSH Terms
Base Sequence
Corneal Dystrophies, Hereditary / diagnosis,  genetics*
DNA Mutational Analysis
Founder Effect*
Molecular Sequence Data
Polymorphism, Single Nucleotide
Transforming Growth Factor beta1 / genetics
Reg. No./Substance:
0/Transforming Growth Factor beta1

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