中国出血性脑血管病患者的遗传特征。

Pub Date : 2022-06-07
Hui Zhu, Yong-Liang Teng, Jing-Yao Liu
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引用次数: 0

摘要

背景:探讨出血性脑血管病的临床和遗传学特点,以期为遗传性脑血管病的防治提供新的理论依据。方法:回顾性分析3例遗传性脑出血病例。调查患者家庭,总结临床特点,并分析基因多态性。结果:3例患者中2例为家族性脑海绵状血管瘤,基因检测显示CCM1基因杂合突变,15外显子碱基(T)缺失(c.1542delT)。最后一例患者为遗传性脑出血伴淀粉样变性,芬兰型,先证者及其母亲、女儿在GSN基因1外显子100位发现杂合G重复突变(c.100dupG)。结论:未来筛查与遗传性脑出血高危人群相关的基因突变,可以帮助识别有这种情况风险的个体,从而减少疾病的发生和进展。这样的筛查将进一步提高脑血管疾病防治的精准度。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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Genetic characteristics of Chinese patients with hemorrhagic cerebrovascular disease.

Background: We investigate the clinical and genetic characteristics of hemorrhagic cerebrovascular disease in order to provide a new theoretical basis for the prevention and treatment of hereditary cerebrovascular disease.

Method: Three hereditary cerebral hemorrhage cases were analyzed retrospectively. The patients' families were surveyed, the clinical characteristics summarized, and gene polymorphisms investigated.

Results: Among the three cases, two patients had familial cerebral cavernous hemangiomas, and genetic testing revealed a heterozygous mutation in the CCM1 gene, with a deletion of base (T) in exon 15 (c.1542delT). The last patient had hereditary cerebral hemorrhage with amyloidosis, Finnish type, and the proband, his mother, and his daughter were found to have a heterozygous G duplicate mutation at position 100 in exon 1 of the GSN gene (c.100dupG).

Conclusions: Future screening for genetic mutations associated with a high-risk of hereditary cerebral hemorrhage can help identify individuals at risk for this condition and thereby reduce the occurrence and progression of the disease. Such screening will further enhance the precision in preventing and treating cerebrovascular diseases.

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