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Studies on the disease-related genes of ano-rectal malformations in pig

猪肛门直肠畸形疾病相关基因的研究

基本信息

批准号：
06454506
负责人：
OHKAWA Haruo
金额：
$ 3.46万
依托单位：
University of Tsukuba
依托单位国家：
日本
项目类别：
Grant-in-Aid for General Scientific Research (B)
财政年份：
1994
资助国家：
日本
起止时间：
1994 至 1995
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-06454506/
关键词：
ano-rectal malformation pig disease-related genes SSCP pig gene map Pig Map ヒト MHC

项目摘要

We established 2 pig families of the hereditary ano-rectal malformations and continued to keep the familial succession of this disease. Two autosomal genes were estimated by the pedigree analysis. For the gene analysis as the final subject of this research, we have accumulated specimens of wbc, spleen and muscle from the still-born neonates and sacrifeced piglets for various study purpose.In 1994, we performed serologically HLA-typing on 12 human ano-rectal malformation cases and 15 pig anomaly, including siblings, using HLA-ABC and DR plate for human use. Significant relations of HLA to the disease were not obtained.Recently there has been a great progress in pig gene map and in the comparative gene map between human, mouse and pig so on. In 1995, we could manage to apply essential approach. We tried to make new gene markers with an application of PCR-SSCp method. We actually examined the material with 3-generation confirmation. A c-DNA library was formed. Tow primers 1B5 and 1C10 were made in relation to the resemblance to human genes with known functions. According to linkage analysis, 1B5 was mapped to the distal end of pig Chr.2, and 1C10 was mapped to Chr.14.Using these 2 markers, the pig family with ano-rectal malformations of Tsukuba University was analyzed on the polymorphism. 1C10 had not any polymorphism in the examinations on 26 materials, while 1B5 had some positivity on 26 materials. Further 100 materials are scheduled for the examination. Polymorphsim analysis must be proceed energetically from now on with all the available genetic markers.

我们建立了2个猪家族的遗传性肛门直肠畸形，并继续保持该疾病的家族遗传。通过家系分析估计了两个常染色体基因。基因分析是本研究的最后一个主题，我们收集了死产新生儿和牺牲仔猪的白细胞、脾脏和肌肉标本，用于各种研究目的。1994年，我们使用人用HLA-ABC和DR板对12例人直肠肛管畸形和15例猪（包括兄弟姐妹）进行血清学hla分型。HLA与疾病的关系不明显。近年来，猪基因图谱以及人、鼠、猪等基因图谱的比较研究都取得了很大进展。在1995年，我们可以设法应用基本方法。我们尝试应用PCR-SSCp方法制作新的基因标记。我们对材料进行了三代确认。形成了c-DNA文库。引物1B5和1C10与已知功能的人类基因相似。经连锁分析，1B5位点定位于猪chr2远端，1C10位点定位于chr2远端。利用这2个标记对筑波大学肛肠畸形猪家族进行多态性分析。1C10在26份材料的检测中无多态性，而1B5在26份材料的检测中有一定的阳性。此外，还有100份材料将参加考试。从现在开始，必须利用所有可用的遗传标记大力进行多态分析。