Parentally imprinted allele (PIA) typing at an STR locus in intron la of imprinted gene KCNQ1

印迹基因 KCNQ1 内含子 la 的 STR 位点的亲本印迹等位基因 (PIA) 分型

• 批准号: 16590536
• 负责人: NAITO Emiko
• 金额: $ 1.47万
• 依托单位: Niigata University
• 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-16590536/
• 关键词: paternity testing; personal identification; human KCNQ1 gene; STR; paternally imprinted allele typing; DNA methylation; メチル化

A short tandem repeat (STR) in the intron 1a of paternally imprinted gene, KCNQ1, is evaluated as a new probe for use in parentally imprinting allele (PIA) typing. This typing can determine the inheritance of one allele from father by the methylation difference. Allelic and genotypic frequencies of the STR were determined using samples from 175 unrelated Japanese and 170 unrelated Germans. The polymorphism information contents were 0.652 and 0.634 for the Japanese and the Germans, respectively, indicating usefulness in individual identification. This method was applied to five Japanese families consisting of 19 individuals. Genomic DNA was digested by methylation-sensitive restriction endonucleases, HhaI and HapII, followed by PCR amplification using two-step sandwich primer sets and the products were analyzed on polyacrylamide gel electrophoresis. For all of the families, each child's paternal allele given by PIA typing corresponded to one of the two alleles from father, not the two from mother, that were determined by the STR genotyping. The results demonstrate that this STR probe is feasible for use in PIA typing and that its typing method can contribute to paternity testing.

在亲子烙印基因KCNQ1的内含子1a中，简短的串联重复（Str）被评估为用于源源不断的等位基因（PIA）键入的新探针。该键入可以通过甲基化差异确定一个等位基因的继承。使用来自175个无关日语和170个无关的德国人的样品确定Str的等位基因和基因型频率。日语和德国人的多态性信息内容分别为0.652和0.634，表明在个体识别中有用。该方法适用于由19个人组成的五个日本家庭。基因组DNA通过甲基化敏感的限制性核酸内切酶（HHAI和HAPII）消化，然后使用两步性三明治引物组进行PCR扩增，并在聚丙烯酰胺凝胶电泳上分析产物。对于所有家庭，Pia键入给出的每个孩子的父亲等位基因与父亲的两个等位基因之一，而不是母亲的两个等位基因，这些等位基因是由STR基因分型确定的。结果表明，该STR探针可用于PIA键入，其键入方法可以有助于亲子鉴定。

项目成果

Parentally imprinted allele (PIA) typing at an SIR locus in intron 1 a of imprinted gene KCNQ1

印迹基因 KCNQ1 内含子 1a 的 SIR 位点的亲本印迹等位基因 (PIA) 分型

• 发表时间: 2006
• 期刊: Legal Medicine (In press)
• 作者: Hong-De Xu;Emiko Naito;Koji Dewa et al.
• 通讯作者: Koji Dewa et al.

Parentally imprinted allele (PIA) typing at an STR locus in intron 1a of imprinted gene KCNQ1

印迹基因 KCNQ1 内含子 1a 的 STR 位点的亲本印迹等位基因 (PIA) 分型

• 发表时间: 2006
• 期刊: Legal Medicine (in press)
• 作者: Hong-De Xu;Emiko Naito;Koji Dewa;Masaaki Fukuda;Hirokazu Sumi;Isao Yuasa;Haruo Yamanouchi
• 通讯作者: Haruo Yamanouchi