巴基斯坦起源的家族中,BTD的基底生物丁酶缺乏症的序列变异
Tariq Moatter1, Sibtain Ahmed1, Hafsa Majid1
1Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
The journal of gene medicine
|September 26, 2023
概括
巴基斯坦儿童的生物酶缺乏症 (BTD) 是由BTD基因突变引起的,导致神经症状. 这项研究确定了特定的突变,并支持本地BTD测试用于早期诊断和新生儿查.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 儿科 儿科 儿科
背景情况:
- 生物酶缺乏症 (BTD) 是一种罕见的,遗传性代谢障碍,影响生物循环,并导致神经问题.
- 这种缺陷的原因是BTD基因中的致病突变.
- 关于巴基斯坦儿童BTD临床特征和遗传突变的数据有限.
研究的目的:
- 调查七名巴基斯坦儿童的临床特征,生物化学概况和BTD基因突变,这些儿童有症状的生物丁酶缺乏症.
- 在这个人群中确定BTD的遗传基础,并支持当地诊断能力的发展.
主要方法:
- 桑格测序被用来识别七名疑似患者BTD基因中的突变.
- 分析了临床数据和尿道有机酸概况.
- 使用突变测量软件进行结果分析.
主要成果:
- 所有七名患者都出现了典型的BTD症状:低血压,发育迟缓和发作.
- 生物化学分析显示,3-基异酸盐,3-基酸盐和甲基酸盐的显著分泌.
- 在同卵同胞状态中发现了三种致病性BTD基因突变:一个框架转移 (c.98_104delinsTCC) 和两个错误 (c.1612C>A,c.1330G>C).
结论:
- 确认BTD基因变异是这些巴基斯坦儿童生物酶缺乏症的原因.
- 通过尿有机酸分析和临床诊断支持的BTD分子测试得到了验证.
- 巴基斯坦本地BTD测试的可用性可以促进新生儿查计划.
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