Molecular analysis of Genetic Polymorphisms in Blood and Development of Primers for Genotyping

血液中遗传多态性的分子分析和基因分型引物的开发

• 批准号: 09557038
• 负责人: YUASA Isao
• 金额: $ 7.62万
• 依托单位: Tottori University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 1997
• 资助国家: 日本
• 起止时间: 1997 至 1999
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-09557038/
• 关键词: Red cell antigen types; Serum protein types; Red cell enzyme types; Nucleotide sequences; DNA polymorphisms; Primers; Paternity tests; 塩基配列

In this projects we have investigated the molecular bases of classical genetic markers in blood to propose simple and rapid genotyping methods. We analyzed (1)ABO, RH and Diego blood group systems as red cell antigens, (2)orosomucoid (alpha-1-acid glycoprotein), group-specific component, inter-alpha-trypsin inhibitor, the R subcomponent of the first component of component, the seventh component of complement, alpha-1-antitrypsin, and the B unit of coagulation factor XIII as serum proteins (3)phosphoglucomutase 1, eaterase D, DNase 1, acetaldehyde dehydrogenase 2, and phosphomannomutase 2 as red cell and other cell enzymes. We also analyzed some null alleles (ORM1ィイD1*ィエD1Q0koln and ITIH1ィイD1*ィエD1Q0iwate), which could cause a false incompatibility between father and child. A nucleotide substitution of de novo mutation, observed in the group-specific component in a German paternity case, was determined. The findings obtained in this study will be useful not only in forensic science but also biological and medical sciences.

在本项目中，我们研究了血液中经典遗传标记的分子基础，以提出简单快速的基因分型方法。我们分析了（1）ABO、RH和Diego血型系统作为红细胞抗原，（2）（α-1-酸性糖蛋白）、组特异性组分、间-α-胰蛋白酶抑制剂、组分的第一组分的R亚组分、补体的第七组分、α-1-抗胰蛋白酶和凝血因子XIII的B单位作为血清蛋白（3）磷酸葡萄糖变位酶1、酯酶D、DNA酶1、乙醛脱氢酶2和磷酸甘露糖变位酶2作为红细胞和其它细胞酶。我们还分析了一些无效等位基因（ORM 1等位基因D1 Q 0 k1和ITIH 1等位基因D1 Q 0 iwate），这可能会导致父亲和孩子之间的假不相容。一个核苷酸取代的从头突变，观察到的组特定的组成部分，在德国的亲子关系的情况下，进行了测定。本研究所获得的结果不仅对法医学，而且对生物学和医学都有一定的参考价值。

项目成果

Weidinger, S.: "Detection of a de novo mutation in the GC system by DNA sequence analysis"Progress in Forensic Haemogenetics. 7. 240-242 (1998)

Weidinger, S.：“通过 DNA 序列分析检测 GC 系统中的从头突变”法医血液遗传学进展。

G.Watanabe, K.Umetsu, I.Yuasa, T.Suzuki: "DXS10011 : a hypervariable tetranucleotide STR polymorphism on the X chromosome"International Journal of Legal Medicine. (in press).

G.Watanabe、K.Umetsu、I.Yuasa、T.Suzuki：“DXS10011：X 染色体上的高变四核苷酸 STR 多态性”国际法律医学杂志。

K.Ago, I.Yuasa, K.Umetsu, O.Tsuganezawa: "Inter-alpha-trypsin inhibitor polymorphism in Southwestern Japan : Geographical clines allele frequencies in Japanese populations. Progress in Forensic Haemogenetics (G. F. Sensabaugh, B. Brinkmann, and P. J. Linc

K.Ago、I.Yuasa、K.Umetsu、O.Tsuganezawa：“日本西南部的α-胰蛋白酶抑制剂间多态性：日本人群中的地理 Clines 等位基因频率。法医血液遗传学进展（G. F. Sensabaugh、B. Brinkmann 和 P. J.

Watanabe G: "Improved naplotype analysis of humcm myelin basic prptein (MBP)STR Coci"Human Biology. (印刷中).

Watanabe G：“改进的 humcm 髓磷脂碱性蛋白 (MBP)STR Coci 的单倍型分析”人类生物学（正在出版）。

Watanabe G: "DXSIOOII; a lyper vavioffe tetra nucbtide STR polymorphism on the Xtbrcmosome"International Journal of Legal Meicine. (印刷中).

Watanabe G：“DXSIOOII；Xtbrcmosome 上的 lyper vavioffe 四核苷酸 STR 多态性”国际法律医学杂志（正在出版）。