The study for fetal growth restriction by epigenetic and geneticanalyses

表观遗传学和遗传学分析胎儿生长受限的研究

基本信息

批准号：
22591831
负责人：
SUZUMORI Nobuhiro
金额：
$ 2.33万
依托单位：
Nagoya City University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2010
资助国家：
日本
起止时间：
2010 至 2012
项目状态：
已结题

项目摘要

Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes such as DLK1and RTL1and maternally expressed genes such as MEG3(aliasGTL2) and RTL1as(RTL1 antisense), together with the germline-derived intergenic differentially methylated region (IG-DMR) and the postfertilization-derived MEG3-DMR. Consistent with this, paternal uniparental disomy 14 (upd(14)pat) results in a unique phenotype characterized by facial abnormality, small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios, and maternal uniparental disomy 14 (upd(14)mat) leads to less-characteristic but clinically discernible features including growth failure. We found the 657T>C mutation of SYCP3may not be associated with recurrent miscarriage caused by 機関番号：23903 研究種目：基盤研究（C）研究期間：2010 ～ 2012 課題番号：22591831 研究課題名（和文）胎児発育不全におけるエピジェネティクス分析と関連遺伝子の解析研究課題名（英文）The study for fetal growth restriction by epigenetic and geneticanal … More yses研究代表者鈴森伸宏（SUZUMORI NOBUHIRO）名古屋市立大学・大学院医学研究科・准教授研究者番号：70326148 aneuploidy. No clinical significance of routine examination of SYCP3 mutation was found because only one benign mutation was ascertained in 101 patients. Our patient with 657T>C had repeated miscarriages with euploidy. Our data showed that among the normal fetal karyotypes, XX and XY were found at a similar frequency, indicating that fetal rather than maternal karyotypes were obtained. In this study, about 90 % of patients with abnormal and normal embryonic (fetal) karyotype tended to have repeat miscarriages with abnormal and normal karyotypes, respectively. Our data suggest that the 657T>C mutation is a polymorphism without the specific function ascertained. Further studies with larger numbers and a wide range of cases are needed to define if the SYCP3mutations can be a cause of recurrent miscarriage. As forANXA5, The variations with the ANXA5gene upstream region, especially SNP5 were confirmed to be risk factors of RPL. However, clinical use was not needed because we could not ascertain the predictive value of risk allele for further miscarriage. Less

人类染色体14q32.2携带一群不可思议的基因，包括诸如DLK1和RTL1和RTL1和主要表达的基因，例如Meg3（aliasgTL2）和RTL1AS（RTL1抗异义），以及生殖线衍生的衍生化合物差异甲基甲基甲基甲基甲基（Ig-ig-diffinemgrive）。 Consistent with this, paternal uniparental disomy 14 (upd(14)pat) results in a unique phenotype characterized by facial abnormality, small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios, and maternal uniparental disomy 14 (upd(14)mat) leads to less-characteristic but clinically discernible features including growth failure.我们发现Sycp3-May的657T> C突变与组织编号引起的反复流产有关：23903研究类别：基础研究（C）研究期：2010- 2012年学科编号：22591831研究主题名称（日本）对胎儿增长和研究的研究名称的研究名称（日语）的研究名称和分析相关的基因分析（英语）的研究（英语）的分析（英语）的基因（英语），分析的基因（英语）的基因（英语）的分析（英语）。遗传…更多的研究人员编号70326148非整倍性。由于101名患者仅确定了一个良性突变，因此没有发现常规检查Sycp3突变的临床意义。我们患有657T> C的患者与Equinox重复流产。我们的数据表明，在正常的胎儿核型中，发现XX和XY的频率相似，表明获得了胎儿而不是母体核型。在这项研究中，大约90％的异常和正常胚胎（胎儿）核型患者往往分别患有异常和正常核型的流产。我们的数据表明，657T> C突变是没有特定函数确定的多态性。进一步的研究需要大量研究和广泛的病例来定义Sycp3Mutation是否可能是反复流产的原因。作为eranxa5，上游区域（尤其是SNP5）的变化被证实是RPL的危险因素。但是，不需要临床使用，因为我们无法确定风险等位基因的预测价值以进一步流产。较少的

项目成果

期刊论文数量（0）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

習慣流産における SYCP3 遺伝子変異解析

习惯性流产SYCP3基因突变分析

DOI：
发表时间：
2011
期刊：
影响因子：
0
作者：
水谷栄太;鈴森伸宏;大瀬戸久美子;大林伸太郎;熊谷恭子;尾崎康彦;中西真;杉浦真弓
通讯作者：
杉浦真弓

Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.

DOI：
10.4161/epi.21937
发表时间：
2012-10
期刊：
Epigenetics
影响因子：
3.7
作者：
Kagami M;Matsuoka K;Nagai T;Yamanaka M;Kurosawa K;Suzumori N;Sekita Y;Miyado M;Matsubara K;Fuke T;Kato F;Fukami M;Ogata T
通讯作者：
Ogata T

Calpain in human reproduction: role of calpain in human placenta of patients with intrauterine growth restriction.

钙蛋白酶在人类生殖中的作用：钙蛋白酶在宫内生长受限患者的人胎盘中的作用。