日本人における口唇裂口蓋裂の発生と形質転換増殖因子α(TGFA)遺伝子およびHOX7遺伝子の関連について

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タイトル別名
  • Association of Transforming Growth Factoralpha Gene and HOX7 Gene with Nonsyndromic Cleft Lip and/or Palate in Japanese.

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Cleft lip and/or palate is one of the most common birth defects, and genetic factors contribute to the development of this disorder. Previous studies have reported an association between the transforming growth factor alpha (TGFA) gene and nonsyndromic cleft lip and palate in Caucasians. The HOX7 gene is also involved, because it was recently demonstrated that the HOX7 deficient mice exhibit cleft palate. An association study of two genes was carried out. Two alleles of TGFA TagI polymorphism (C1: 3.0 kb, C2: 2.7 kb) were detected using Southern method. The C1C1 and C1C2 genotypes were identified but the C2C2 genotype was not detected. A significant difference was observed in genotype distribution between cleft palate and controls (P=0.040), but not between cleft lip with or without palate and controls. The C1C2 frequency in Japanese controls was higher than those in Caucasians reported previously by three groups. No significant association was found between clefting and each of microsatellitic polymorphism, adjacent to the HOX7 gene. These results suggest that either the TGFA gene itself or an adjacent DNA sequence may contribute to the development of cleft palate in Japanese.

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