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首页> 外文期刊>International Journal of Genetic Engineering >MYH7 Gene Mutations in Dilated Cardiomyopathy Patients: About 190 Cases at the Institute of Cardiology, Abidjan
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MYH7 Gene Mutations in Dilated Cardiomyopathy Patients: About 190 Cases at the Institute of Cardiology, Abidjan

机译:扩张型心肌病患者的 MYH7 基因突变:阿比让心脏病研究所约190例

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摘要

Cardiomyopathies are one of the main causes of heart failure and dilated cardiomyopathy (DCM) is the most common among them in Africa. Several genetic mutations are involved in the etiology of DCM. Thus, the objective of this study was to look for mutations of the MYH7 gene in patients suffering from DCM through a cross-sectional study. For all patients recruited, we collected the socio-demographic, clinical, therapeutic and radiological data. A tube of venous blood was taken in order to research by sequencing mutations on exons 13, 24 and 31 of the MYH7 gene. The study population included 190 patients. They were predominantly male (72.00%) and their mean age was 55.18 ± 13.83 years. The major personal medical history was high blood pressure (20.00%). A family history of heart disease and sudden death was found in 16.80% and 12.60% of patients, respectively. All patients benefiting from sequencing (n = 32) had at least one mutation in the MYH7 gene, so a prevalence of 100%. A total of 29 mutations were observed, divided into 62.07% missense mutations (n = 18/29), 24.14% silent mutations (n = 7/29), 10.34% deletions (n = 3/29) and 3.45% insertions (n = 1/29). Exon 24 was the most unstable with 21 mutations and some patients had multiple mutations. Mutations in the MYH7 gene were frequent and diverse in patients with DCM in C?te d'Ivoire. It is necessary to establish the link between these mutations and their importance in early management of DCM.
机译:心肌病是心力衰竭的主要原因之一,而扩张型心肌病(DCM)在非洲最为常见。 DCM的病因涉及几种遗传突变。因此,该研究的目的是通过横断面研究寻找患有DCM的患者中的MYH7基因的突变。对于所有招募的患者,我们收集了社会人口统计学,临床,治疗和放射学数据。为了通过测序MYH7基因的外显子13、24和31上的突变进行测序,取了一根静脉血进行研究。研究人群包括190名患者。他们主要是男性(72.00%),平均年龄为55.18±13.83岁。主要的个人病史是高血压(20.00%)。分别有16.80%和12.60%的患者有心脏病和猝死的家族史。所有受益于测序的患者(n = 32)在MYH7基因中至少有一个突变,因此患病率为100%。总共观察到29个突变,分为62.07%的错义突变(n = 18/29),24.14%的沉默突变(n = 7/29),10.34%的缺失(n = 3/29)和3.45%的插入(n = 1/29)。外显子24最不稳定,有21个突变,有些患者有多个突变。在科特迪瓦的DCM患者中, MYH7基因的突变非常频繁且多样。有必要在这些突变及其在DCM早期管理中的重要性之间建立联系。

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