结缔组织发育不良分子遗传标记物检测分析

引言。结缔组织病（CTD）是一种遗传性、多因素性疾病，其特征在于胚胎期和出生后期间结缔组织发育异常。这种异常源于基因决定的细胞及细胞外基质形成、成熟和代谢过程的缺陷。本研究旨在探讨ADAMTS5基因三个多态性位点与结缔组织病总体风险及特定表型特征之间的关联。

材料与方法。 采用横断面研究设计。研究共纳入181名受试者（男性35人，占19.3%；女性146人，占80.7%），平均年龄为21.9岁（标准差为2.9岁）。第一阶段，所有受试者接受临床检查，并使用由秋林A.V.修改的卡杜林娜T.I.评分量表评估CTD体征。第二阶段进行分子遗传学分析。采用Excel 2024和GraphPad Prism 8软件包进行数据处理与统计分析。

结果。 通过定量评分方法的临床检查，在130名受试者（71.8%）中发现了CTD体征。对ADAMTS5基因位点（rs226794、rs9978597和rs2830585）的等位基因和基因型频率分布进行比较分析，发现了以下统计学显著关联：rs226794的A等位基因和AA基因型与内脏器官疝气的发生相关（分别为p=0.015和p=0.007）；rs9978597的T等位基因和TT基因型与CTD相关（分别为p=0.003和p=0.004）；同时，该T等位基因和TT基因型还与皮肤过度伸展（分别为p=0.03和p=0.03）以及肌张力减退（分别为p=0.015和p=0.02）相关。

结论。 因此，ADAMTS5基因的rs226794多态性位点是内脏器官疝气发生的风险标志物，而rs9978597位点则是CTD、皮肤过度伸展和肌张力减退发生的风险标志物。

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