罗姆人表皮生长因子受体基因变异频率。

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2023-11-01 DOI:10.1089/gtmb.2023.0377
Soňa Mačeková, Matúš Mathia, Dana Dojčáková
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引用次数: 0

摘要

目的:表皮生长因子受体(EGFR)基因中的致病性变异p.GLY428Asp (c.1283G-A)导致新生儿炎症性皮肤和肠道疾病2,这是一种在婴儿时期由于皮肤感染和败血症而致命的疾病。这种变异似乎仅限于罗姆人,迄今为止报告的大多数患者来自斯洛伐克或捷克共和国。这项研究的目的是确定这种变异在斯洛伐克罗姆人中的频率。方法:采用实时荧光定量PCR技术,对1321例斯洛伐克罗姆裔无亲缘关系健康人群进行EGFR基因p.GLY428Asp变异检测。结果:吉卜赛人携带频率为2.65%。结论:这是第一次报道这种变异的频率。先前报告的高频率携带者和大量患者证明,EGFR基因中的p.GLY428Asp变异是斯洛伐克及其邻近地区罗姆人的主要健康问题。
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Frequency of Epidermal Growth Factor Receptor Gene Variant in Roma Population.

Aims: The pathogenic variant, p.GLY428Asp (c.1283G-A), in the epidermal growth factor receptor (EGFR) gene causes neonatal inflammatory skin and bowel disease 2, a disorder that is lethal during infancy due to skin infections and sepsis. This variant seems to be restricted to people of Roma origin with the majority of patients thus far reported being from Slovakia or the Czech Republic. The aim of this study was to establish the frequency of this variant in the Roma population in Slovakia. Methods: A population sample of 1321 unrelated healthy individuals of Roma origin from Slovakia was tested for the p.GLY428Asp variant in EGFR gene by real-time PCR. Results: The carrier frequency in the Roma ethnic group was 2.65%. Conclusions: This is the first report of the frequency of this variant. A high frequency of carriers together with a significant number of patients reported previously proves the p.GLY428Asp variant in the EGFR gene is a major health concern of the Roma populations in Slovakia and neighboring regions.

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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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