Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta
Küçük Resim Yok
Tarih
2009
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Amelogenesis imperfectas (AI) are a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence of a genetic etiology of AI for the seven major candidate gene loci (AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, and TUFT1). Dental and periodontal characteristics of the affected members of these families were also described. The mean scores of DMFS and dfs indices were 9.7 and 9.6, respectively. The mean PPD was 2.2mm and the percentage of the sites with plaque and BOP were 87.8% and 72.4%, respectively. The exons and intron/exon junctions of the candidate genes were sequenced and no gene mutations were identified in any individuals. These findings support the existence of an additional gene(s) that are etiologic for ARAI in these families. © 2009 Wiley-Liss, Inc.
Açıklama
Anahtar Kelimeler
AMBN, AMELX, Autosomal recessive amelogenesis imperfecta, ENAM, FAM83H, KLK4, MMP20, TUFT1
Kaynak
American Journal of Medical Genetics, Part A
WoS Q Değeri
Scopus Q Değeri
Q2
Cilt
149
Sayı
7
