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    • 3. 发明申请
    • IRF6 polymorphisms associated with cleft lip and/or palate
    • 与唇裂和/或腭裂相关的IRF6多态性
    • US20050089885A1
    • 2005-04-28
    • US10840139
    • 2004-05-06
    • Brian SchutteJeffrey MurrayShinji KondoMichael Dixon
    • Brian SchutteJeffrey MurrayShinji KondoMichael Dixon
    • C12Q1/68
    • C12Q1/6883C12Q2600/156
    • This invention relates to polymorphisms in the IRF6 gene which are associated with various diseases, such as Van der Woude syndrome, Poplitieal syndrome, isolated cleft lip and/or palate, and other orofusial clefting disorders. The invention also relates to the nucleotide sequences of this gene, isolated nucleic acids comprising these nucleotide sequences, and isolated polypeptides or peptides encoded thereby. The invention further relates to vectors and host cells comprising the disclosed nucleotide sequences, or fragments thereof, as well as antibodies that bind to the encoded polypeptides or peptides. In addition the invention relates to methods and compositions employing the disclosed nucleic acids, polypeptides or peptides, or antibodies for use in diagnostics and therapeutics for IRF6 associated disorders, e.g., Van der Woude syndrome, Poplitieal syndrome, isolated cleft lip and/or palate, and other orofusial clefting disorders.
    • 本发明涉及与各种疾病相关的IRF6基因的多态性,例如范德伍德综合征,普遍综合征,孤立性唇裂和/或腭裂以及其他肛裂开裂病症。 本发明还涉及该基因的核苷酸序列,包含这些核苷酸序列的分离的核酸,以及由此编码的分离的多肽或肽。 本发明还涉及包含所公开的核苷酸序列或其片段的载体和宿主细胞,以及结合编码的多肽或肽的抗体。 此外,本发明涉及使用所公开的核酸,多肽或肽或用于诊断和治疗IRF6相关疾病的抗体的方法和组合物,例如范德伍德综合征,普遍综合征,分离的唇裂和/或腭裂, 和其他无性解剖障碍。