台湾Ivemark综合征患者是否存在连接蛋白43 Ser364Pro突变?

W C Chen, F J Tsai, J Y Wu, H C Wu, C W Li
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引用次数: 0

摘要

背景:Britz-Cunningham等(N Engl J Med, 1995)的研究表明,连接蛋白43 (CX43)缝隙连接基因突变可能是导致Ivemark综合征的原因。Ser364Pro取代(TCA- >CCA)是位于CX43细胞质尾结构域的最常见突变。该区域可能是间隙结电导通道的重要组成部分。因此,它可能导致胚胎发育过程中的心脏异常和位置反转,从而导致Ivemark综合征。方法:对10例Ivemark综合征患者、10例健康人、1例Kartagener综合征患者和1例多脾逆位但无该突变的心脏异常患者进行研究。采用从外周血细胞中提取DNA的DNA模板进行半胱氨酸聚合酶链反应(PCR)。第二轮PCR产物纯化后直接测序。然后,将该序列与CX43 cdna编码区的最后402 bp进行比较。结果:在Ivemark综合征患者或其他患者组中,先前报道的Thr326、Gln352、Ser364、Ser365和Ser373的CX43残基未发现碱基变化。结论:10例台湾Ivemark综合征患者中不存在CX43的Ser364Pro突变。其他导致伊夫马克综合征的基因还有待进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Does Ser364Pro mutation of connexin 43 exist in Taiwanese patients with Ivemark syndrome?

Background: A previous study by Britz-Cunningham et al (N Engl J Med, 1995) indicated that a mutation of the connexin 43 (CX43) gap junction gene might be responsible for Ivemark syndrome. Ser364Pro substitution (TCA-->CCA) is the most common mutation located in the cytoplasmic tail domain of CX43. This domain may be an important part of the conductance channel of the gap junction. It may, therefore, result in heart anomalies and situs inversus during embryonic development, resulting in Ivemark syndrome.

Methods: We investigated 10 patients with Ivemark syndrome, 10 healthy individuals, one patient with Kartagener syndrome and one with polysplenia and situs inversus but without heart anomaly for this mutation. Seminested polymerase chain reaction (PCR) was performed using a DNA template from DNA extracted from peripheral blood cells. Direct sequencing was done after purification of the second round of PCR products. Then, the sequence was compared with the last 402 bp of the cDNA-coding region of CX43.

Results: No base changes were found in the patients with Ivemark syndrome or other patient groups at the previously reported CX43 residues of Thr326, Gln352, Ser364, Ser365 and Ser373.

Conclusions: The results indicate that Ser364Pro mutation of CX43 did not exist in the 10 Taiwanese patients with Ivemark syndrome. Other genes responsible for the Ivemark syndrome should be further investigated.

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