Analysis of Growth Retarded Fetus with Molecular Genetics -Correlation with Genomic Imprinting or Uniparental Disomy-

生长迟缓胎儿的分子遗传学分析-与基因组印记或单亲二体性的相关性-

• 批准号: 09671697
• 负责人: MASUZAKI Hideaki
• 金额: $ 1.73万
• 依托单位: Nagasaki University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1997
• 资助国家: 日本
• 起止时间: 1997 至 1998
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-09671697/
• 关键词: IUGR; CPM; UPD; IGF2; 胎児発育遅延; ゲノム刷り込み; 片親性ダイソミ-; 分子遺伝学; confined placental mosaicism

1) Chromosomal analysis of the amniotic fluid and placenta was performed on forty cases with growth retarded fetus. Confined placental mosaicism(CPM) was found. in four cases(lO%). Placental karyotypes of these four cases were, l)mos 46, XY /50, XY, +2, +7, +15, +20, 2) mos 46, XY/48, XY, +7, +13, 3) mos 46, XY/47, XY, +13 and 4)mos 46, XY/47, XY, +2, respectively.2) Though molecular analysis was performed in one case with fetus suspected Russell-Silver syndrome, uniparental disomy was not existed.3) No abnormality was found about IGF2 gene in a placenta associated with fetal growth retardation.

1)本文对40例生长迟缓胎儿的羊水和胎盘进行了染色体分析。局限性胎盘嵌合体（CPM）4例（10%）。4例患者的胎盘核型分别为：1）mos 46，XY /50，XY，+2，+7，+15，+20; 2）mos 46，XY/48，XY，+7，+13; 3）mos 46，XY/47，XY，+13; 4）mos 46，XY/47，XY，+2，2）对1例可疑Russell-Silver综合征胎儿进行了分子生物学分析，1例胎儿生长迟缓胎盘组织中未发现IGF 2基因异常。