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首页> 外文期刊>Journal of genetics >Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families
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Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families

机译：中国非合成型唇膏/口感家庭的新型TBX22突变

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摘要

TBX22 is a gene which contribute to cleft lip/palate, and many mutation sites of TBX22 have been reported. However, the exact role of TBX22 mutation in Chinese nonsyndromic cleft lip/palate (NSCL/P) family was not clearly explored. In this study, we tried to investigate the profiles and effects of TBX22 mutation in Chinese NSCL/P family. Members of two Chinese NSCL/P families and 200 normal controls were enrolled in this study. Further, DNA sequence and bioinformatic analysis for TBX22 were performed. The results showed that a novel and essential splicing site mutation, IVS6-1GC, was detected in a family with cleft palate. The bioinformatic analysis results showed that this mutation would lead to abnormal transcription or translation, followed by a loss of function of TBX22. In addition, a hemizygous missense mutation, c.874G A (p.D292N), was first reported in another Chinese family, which may exhibit aggravated effects on the phenotypes of CL/P. Taking these findings together, this study provides a profile of TBX22 mutation in Chinese NSCL/P families, and further confirmed the important role of TBX22 in familial cases with X-linked cleft palate.
机译：TBX22是一个与唇腭裂有关的基因，已有许多TBX22突变位点的报道。然而，TBX22突变在中国非综合征性唇腭裂（NSCL/P）家族中的确切作用尚不清楚。在本研究中，我们试图研究中国NSCL/P家族中TBX22突变的特征和影响。本研究纳入了两个中国NSCL/P家族成员和200名正常对照。此外，还进行了TBX22的DNA序列和生物信息学分析。结果表明，一种新的必需剪接位点突变IVS6-1G；C、 在一个患有腭裂的家庭中检测到。生物信息学分析结果表明，这种突变会导致异常转录或翻译，然后导致TBX22功能丧失。此外，一个半合子错义突变，c.874G；A（p.D292N）首次在另一个中国家族中被报道，可能对CL/p的表型表现出加重的影响。综合这些发现，本研究提供了中国NSCL/p家族中TBX22突变的概况，并进一步证实了TBX22在X连锁腭裂家族病例中的重要作用。

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  • 来源
    《Journal of genetics》 |2018年第2期|共7页
  • 作者

    Dai Jiewen; Xu Chen; Wang Guomin; Liang Yun; Wan Teng; Zhang Yong; Xu Xiaofeng; Yu Lebin; Che Zonggang; Han Qiqing; Wu Dandan; Yang Yusheng;

  • 作者单位

    Shanghai Jiao Tong Univ Shanghai Peoples Hosp 9 Sch Med Dept Oral &

    Craniomaxillofacial Surg Shanghai 200011 Peoples R China;

    Cent Hosp ZiBo Dept Oral &

    Maxillofacial Surg Zibo 255036 Peoples R China;

    Shanghai Jiao Tong Univ Shanghai Peoples Hosp 9 Sch Med Dept Oral &

    Craniomaxillofacial Surg Shanghai 200011 Peoples R China;

    Shanghai Jiao Tong Univ Shanghai Peoples Hosp 9 Sch Med Dept Oral &

    Craniomaxillofacial Surg Shanghai 200011 Peoples R China;

    Shanghai Jiao Tong Univ Shanghai Peoples Hosp 9 Sch Med Dept Oral &

    Craniomaxillofacial Surg Shanghai 200011 Peoples R China;

    Shanghai Jiao Tong Univ Shanghai Peoples Hosp 9 Sch Med Dept Oral &

    Craniomaxillofacial Surg Shanghai 200011 Peoples R China;

    Shanghai Jiao Tong Univ Shanghai Peoples Hosp 9 Sch Med Dept Oral &

    Craniomaxillofacial Surg Shanghai 200011 Peoples R China;

    Cent Hosp ZiBo Dept Oral &

    Maxillofacial Surg Zibo 255036 Peoples R China;

    Cent Hosp ZiBo Dept Oral &

    Maxillofacial Surg Zibo 255036 Peoples R China;

    Cent Hosp ZiBo Dept Oral &

    Maxillofacial Surg Zibo 255036 Peoples R China;

    Shanghai Jiao Tong Univ Shanghai Peoples Hosp 9 Sch Med Dept Oral &

    Craniomaxillofacial Surg Shanghai 200011 Peoples R China;

    Shanghai Jiao Tong Univ Shanghai Peoples Hosp 9 Sch Med Dept Oral &

    Craniomaxillofacial Surg Shanghai 200011 Peoples R China;

  • 收录信息
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 遗传学;
  • 关键词

    cleft lip; cleft palate; chinese families; nonsyndromic; TBX22 gene;

    机译：唇裂;腭裂;中国家庭;非合成瘤;TBX22基因;

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