ANALYSIS OF IN VIVO HPRT MUTATIONS IN PREMATURE INFANTS

早产儿体内 HPRT 突变分析

• 批准号: 6115924
• 负责人: BARRY Alan FINETTE
• 金额: $ 3.29万
• 依托单位: UNIVERSITY OF VERMONT & ST AGRIC COLLEGE
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6115924
• 关键词: T lymphocyte; clinical research; developmental genetics; gender difference; gene frequency; gene mutation; gestational age; human genetic material tag; human subject; hypoxanthine phosphoribosyltransferase; medical records; mutant; premature infant human; T lymphocyte; clinical research; developmental genetics; gender difference; gene frequency; gene mutation; gestational age; human genetic material tag; human subject; hypoxanthine phosphoribosyltransferase; medical records; mutant; premature infant human

Limited information is available regarding the frequency, spectrum, and clinical relevance of somatic mutations in the developing fetus. The goal of this study was to determine somatic mutant frequencies (Mfs) at the hypoxanthine phosphoribosyltransferase (HPRT) reporter gene in cord blood T lymphocytes from preterm infants to gain insight into in utero mutational events. Mf determinations were made by using the HPRT T cell cloning assay on cord blood samples from 52 preterm infants. Natural logarithm Mfs (InMfs) from preterm infants were compared with results from our database for full-term infants. Our analysis revealed higher InMfs in cord blood T lymphocytes from preterm compared with full-term infants (P=0.008). In addition, preterm females had significantly higher InMfs compared with full-term females (P<0.001), whereas preterm males were found to have significantly lower InMfs than preterm females (P=0.005). Regression analyses also demonstrate a significant relationship between InMf and gestational age for preterm females that does not exist for preterm males. These results demonstrate the gender-specific association between Mf and age in humans.

有关频率，频谱和 体细胞突变在发育中的胎儿中的临床相关性。 目标 这项研究是确定在 脐带血T中的低黄嘌呤磷脂基质转移酶（HPRT）报告基因 早产儿的淋巴细胞以深入了解子宫内突变 事件。 通过使用HPRT T细胞克隆测定法进行MF测定 在52位早产儿的脐带血样本上。 天然对数MF （INMF）来自早产儿的（我们的数据库的结果） 适用于完整的婴儿。 我们的分析表明，脐带血T中的INMF较高 与完整的婴儿相比，早产的淋巴细胞（p = 0.008）。 在 此外，早产女性的INMF明显更高 完整的女性（p <0.001），而早产雄 INMF明显低于早产雌性（p = 0.005）。 回归 分析还表明INMF和 早产雄性不存在的早产女性的胎龄。 这些结果表明了MF和 人类的年龄。