神经纤维素炎1型基因的主要部分:cDNA序列,基因组结构和点突变
1Department of Human Genetics, University of Utah School of Medicine, Salt Lake City 84103.
Cell
|July 13, 1990
概括
转位断点区域 (TBR) 基因被证实为神经纤维素炎1型 (NF1) 基因. 在NF1患者中确定突变的测序,澄清了这种疾病的遗传基础.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 人类疾病遗传学 人类疾病遗传学
背景情况:
- 转位断点区域 (TBR) 基因位于神经纤维素瘤类型1 (NF1) 位点.
- 已知该基因因被删除和特定转位 (t(17;22) 中断.
研究的目的:
- 为了测序TBR基因的重叠cDNA克隆.
- 鉴定1型神经纤维素瘤患者的TBR基因结构和突变的特征.
主要方法:
- 测序cDNA克隆并与基因组DNA进行比较.
- 聚合酶链反应 (PCR) 放大基因外基因.
- 化PCR产品在原生凝上的电泳.
- 直接测序已识别的突变变异基因.
主要成果:
- 分析了4kB的转录序列,揭示了多个小的外子和拼接接口.
- 确定TBR基因的定向是5'端向中心粒方向.
- 通过PCR和凝电泳,通过PCR和凝电泳确定了6种特定于NF1患者的变异对应物.
- 测序确定了特定的突变,包括T-C过渡 (从白氨酸转变为氨酸) 和C-T过渡 (从氨酸转变为氨酸).
结论:
- 该TBR基因被确定为NF1基因.
- 这项研究详细描述了NF1基因的很大一部分.
- 鉴定到的突变提供了对1型神经纤维素瘤病变背后的分子机制的洞察.
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