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基因表达和生化分析在alkaptonuria由创始人致病变体引起的印度不同年龄组的基因表达和生化分析

Suneetha Susan Cleave Abraham¹, Anitha Barney¹, Sony Mohan¹

¹Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.

The Indian journal of medical research

|December 31, 2024

概括

阿尔卡普顿尿症 (AKU) 是一种由HGD基因变异引起的遗传性疾病. 这项研究证实了创始人变种的存在.

科学领域:

遗传学是一个遗传学.
生物化学生化学
罕见疾病罕见疾病

背景情况:

阿尔卡普顿尿症 (AKU) 是一种由同源化1,2-二氧化酶 (HGD) 基因中的致病变体引起的自体衰退性疾病.
在泰米尔纳德邦的纳里库拉瓦尔社区中,一种特定的创始人变种 (c.87+1G>A) 普遍存在,导致高同质酸 (HGA) 水平.
在连接组织中的HGA沉积会导致AKU的特征症状.

研究的目的:

在纳里库拉瓦尔社区调查创始人HGD变异的功能后果.
在AKU患者中,将HGD基因表达与临床表现和HGA水平相关联.
确定HGA水平作为该人口中AKU严重程度的潜在生物标志物.

主要方法:

从30名AKU患者,携带者和30名来自Narikuravar社区的野生类型个体收集了血液和尿液样本.
使用高性能液态染色学量化血和尿液HGA水平.
在RNA提取和cDNA合成后,通过RT-qPCR分析了HGD基因表达.
证实了外因子跳转和与临床数据和HGA水平相关的基因表达.

主要成果:

测序证实了受影响个体的外因子2跳转,导致HGD表达减少.
减少的HGD表达与年轻个体 (≤22岁) 的血HGA水平显著相关.
降低HGD表达与21-37岁年龄组的背痛有关.
年龄的增加与血HGA正相关,与尿液HGA负相关.

结论:

这项研究提供了第一个功能确认 (RT-PCR) 的创始人HGD变体的影响在纳里库拉瓦尔AKU人口.
血和尿液中的HGA水平与HGD基因表达相关,可以作为AKU严重程度的潜在生物标志物.
了解基因型-表型相关性对于管理该社区的AKU至关重要.

关键词:

在HGD基因的基因.生物标志物生物标志物在HPLC中使用HPLC.RT-qPCRR 是一个人.印度南部的印度.突出跳过的突出跳过血中的HGA HGA是什么?拼接变体的拼接变体

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