CHROMOSOME MAPPING OF MUTANT GENE CONCERNING GENETIC DISEASE IN MICE USING DNA POLYMORPHISMS

利用 DNA 多态性对小鼠遗传疾病相关突变基因进行染色体定位

• 批准号: 02454526
• 负责人: WATANABE Tomomasa
• 金额: $ 3.14万
• 依托单位: INSTITUTE FOR DEVELOPMENTAL RESEARCH, AICHI PREFECTURE COLONY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (B)
• 财政年份: 1990
• 资助国家: 日本
• 起止时间: 1990 至 1992
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-02454526/
• 关键词: mouse; DNA polymorphism; RFLP; chromosome mapping; backcross; MRL strain; autoimmune disease; linkage; PCR多型; 野生マウス; 形態形成異常; マウス第5染色体; MRLマウス; 自己免疫疾患遺伝子; リンケ-ジ; スフィンゴミエリネ-ス; ニ-マンピック病

The lpr (lymphoproliferation) gene, which is an autosomal recessive gene causing autoimmune disease with features of human systemic lupus erythematosus and iventually death from severe immune-complex glomerulonephritis, has been mapped on mouse chromosome 19. To determine the exact chromosomal location of the lpr gene, the interspecific backcross was carried out by the mating (MRL/MpJ-lpr/lpr x MOL-TIT)x MRL/MpJ-lpr/lpr. Ly-44 (lymphocyte differentiation antigen-44) and Tdt (terminal deoxynucleotidyl transerase) were used as molecular marker genes on chromosome 19. RFLP of Ly-44 (lymphocyte differentiation antigen-44) and Tdt were in the case of BamHI. The following order of genes is proposed with the distances between genes given in parenthese: centromere - Ly-44 - (19.3cM) - lpr - (6.1cM) - Tdt - telomere. Therefore, the lpr gene is mapped at position 23 on mouse chromosome 19.

lpr（淋巴细胞增殖）基因是一种常染色体隐性遗传基因，可引起以人类系统性红斑狼疮为特征的自身免疫性疾病，并最终死于严重的免疫复合物肾小球肾炎，已定位于小鼠19号染色体。为了确定lpr基因的精确染色体定位，通过交配（MRL/MpJ-lpr/lpr x MOL-TIT）x MRL/MpJ-lpr/lpr进行种间回交。Ly-44（淋巴细胞分化抗原-44）和Tdt（末端脱氧核苷酸转移酶）被用作19号染色体上的分子标记基因。Ly-44（淋巴细胞分化抗原-44）和Tdt的限制性片段长度多态性（RFLP）均符合BamH Ⅰ酶切。基因顺序如下：着丝粒- Ly-44 -（19.3cM）- lpr -（6.1cM）- Tdt -端粒。因此，lpr基因定位在小鼠19号染色体上的23位。

项目成果

Sakai, Y., Miyawaki, S., Shimizu, A., Ohno, K. and Watanabe, T.: "A molecular genetic linkage map of mouse chromosome 18, including spm, Gr1-1, Fim-2/c-fms, and Mbp." Biochemical Genetics. 29. 103-113 (1991)

Sakai, Y.、Miyawaki, S.、Shimizu, A.、Ohno, K. 和 Watanabe, T.：“小鼠 18 号染色体的分子遗传连锁图，包括 spm、Gr1-1、Fim-2/c-fms

Watanabe,T.,Shimizu,A.,Ohno,K.,Masaki,S.and Kondo,K.: "Restriction fragment length variations and chromosome mapping of two mouse metallothionein genes,<Mtー1>___ー and <Mtー2>___ー." Biochemical Genetics. 27. 689-697 (1989)

Watanabe, T.、Shimizu, A.、Ohno, K.、Masaki, S. 和 Kondo, K.：“两个小鼠金属硫蛋白基因 <Mt-1>___- 和 <Mt - 的限制片段长度变异和染色体作图2>___-。”生化遗传学。27. 689-697 (1989)

Masaki, S., Tamai, K., Shoji, R., and Watanabe, T.: "Defect of fiber cell specific 94-kDa protein in the lens of inherited microphthalmic mutant mouse Elo." Biochem. Biophys. Res. Commun.179. 1175-1180 (1991)

Masaki, S.、Tamai, K.、Shoji, R. 和 Watanabe, T.：“遗传性小眼突变小鼠 Elo 晶状体中纤维细胞特异性 94-kDa 蛋白的缺陷。”

Sato.H., Sakai.Y., Koiwai.O.and Watanabe.T.: "Mapping of the mouse bilirubin UDP glucuronosyl transferase gene(Gnt-1) to chromosome 1 by restriction fragment length variafions." Biochemical Genefics. 30. 347-352 (1992)

Sato.H.、Sakai.Y.、Koiwai.O. 和 Watanabe.T.：“通过限制性片段长度变化将小鼠胆红素 UDP 葡萄糖醛酸基转移酶基因 (Gnt-1) 映射到 1 号染色体。”

Masaki,S.and Watanabe,T.: "cDNA seguence analysis of CD94:rat lens fiber cell beaded-filament struetural prdein shows howdogy to cytokeratins." Biochem.Biophys.Res.Commun.186. 190-198 (1992)

Masaki,S. 和 Watanabe,T.：“CD94 的 cDNA 序列分析：大鼠晶状体纤维细胞珠状丝状结构蛋白显示了细胞角蛋白的作用。”