The role of Gli2 gene analysis in anal atresia with natural occurring pig model

Gli2 基因分析在自然发生的猪模型肛门闭锁中的作用

• 批准号: 16591781
• 负责人: HORI Tetsuo
• 金额: $ 2.11万
• 依托单位: University of Tsukuba
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2004
• 资助国家: 日本
• 起止时间: 2004 至 2005
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-16591781/
• 关键词: anal atresia; gene; Gli2; linkage; Chr15; Chr9; multifactorial; polygenic; 鎖肛ブタ; linkage; Chr15; Chr9; multifactorial; polygenic

Anal atresia is a relatively common congenital malformation that occurs in about 1 out of 5000 infants, caused by abnormal hindgut development of the embryo, often associated with other developmental anomalies (e.g., Currarino, Townes-Brock, Pallister-Hall syndromes, and VATER association). Genetic analysis in human families is exceedingly difficult due to the multifactorial nature of the trait. In pigs, anal atresia occurs at a higher incidence (0.18%) than in humans. A complete genome scan (165 microsatellite markers) was performed using a backcross pedigree previously obtained by crossing affected animals from a partially inbred line, selected for a high incidence of anal atresia, with an unaffected male of a different breed (Meishan). The data set was analyzed with classical linkage (TWOPOINT) and nonparametric genetic methods (NPL, Non-Parametric Linkage, and TDT, Transmission Disequilibrium Test). Both methods support association of the trait with two loci on Chromosomes 9 and 15. GLI2 (GLI-Kruppel family member GLI2) was identified as a positional candidate gene based on comparative mapping ; radiation hybrid mapping confirmed that this locus is located within the QTL region.

肛门闭锁是一种相对常见的先天性畸形，发生在约1/5000的婴儿中，由胚胎的异常后肠发育引起，通常与其他发育异常（例如，Currarino、Townes-Brock、Pallister-Hall综合征和VATER协会）。由于性状的多因素性质，人类家庭的遗传分析非常困难。在猪中，肛门闭锁的发生率（0.18%）高于人类。一个完整的基因组扫描（165个微卫星标记）进行了使用回交系谱先前获得的杂交受影响的动物从部分近交系，选择高发病率的肛门闭锁，与一个未受影响的男性不同的品种（梅山）。用经典连锁（TWOPOINT）和非参数遗传方法（NPL，非参数连锁和TDT，传递不平衡检验）分析数据集。这两种方法都支持该性状与9号和15号染色体上的两个基因座的关联。GLI 2（GLI-Kruppel家族成员GLI 2）被鉴定为基于比较作图的位置候选基因;辐射杂交作图证实该位点位于QTL区域内。

项目成果

Genetic analysis of anal atresia in pigs: evidence for segregation at two main loci

• DOI: 10.1007/s00335-004-3024-6
• 发表时间: 2005-03
• 期刊: Mammalian Genome
• 影响因子: 2.5
• 作者: P. Cassini;A. Montironi;S. Botti;T. Hori;Haruo Okhawa;A. Stella;L. Andersson;E. Giuffra

新生児における腸回転異常を伴わない小腸軸捻転症の診断と治療

新生儿不伴肠旋转不良的小肠扭转诊治

• 发表时间: 2005
• 期刊: 小児外科 37・7
• 作者: Kumazaki T;Hiyama K;Takahashi T;Omatsu H;Tanimoto K;Noguchi T;Hiyama E;Mitsui Y;Nishiyama M.;Yata T et al.;小室広昭
• 通讯作者: 小室広昭

Placental vascular compromise in jejunoileal atresia.

空肠闭锁中的胎盘血管损害。

• 发表时间: 2004
• 期刊: J Pediatr Surg 39・11
• 作者: Yuriko Sato;et al.;藤田恵子;Komuro H
• 通讯作者: Komuro H

Indications for Living Donor Liver Transplantation in Biliary Atresia

胆道闭锁活体肝移植的适应症

• 发表时间: 2005
• 期刊: Japanese Journal of Pediatrics 58-9
• 作者: Eiso Hiyama;Keiko Hiyama;Hiroaki Yokoyama;Taijiro Sueda;C.Patrik Reynolds;Takashi Yokoyama;Kakizawa H et al.;山田昌和;Tetsuo Hori
• 通讯作者: Tetsuo Hori

胆道閉鎖症における生体肝移植手術の適応について当院で生体肝移植手術を施行した15例の経験より

根据我院15例接受活体肝移植手术患者的经验，了解胆道闭锁活体肝移植手术的适应证。

• 发表时间: 2005
• 期刊: 小児科臨床 58(9)
• 作者: Hori;H.;Nagasawa;H.;Uto;Y.;Ohkura;K.;Kirk;K.L;Uehara;Y.;Shimamura;M.;M Hirota-Kawadobora;堀哲夫
• 通讯作者: 堀哲夫