{"title":"罗姆人表皮生长因子受体基因变异频率。","authors":"Soňa Mačeková, Matúš Mathia, Dana Dojčáková","doi":"10.1089/gtmb.2023.0377","DOIUrl":null,"url":null,"abstract":"<p><p><b><i>Aims:</i></b> The pathogenic variant, p.GLY428Asp (c.1283G-A), in the epidermal growth factor receptor (<i>EGFR</i>) 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. <b><i>Methods:</i></b> A population sample of 1321 unrelated healthy individuals of Roma origin from Slovakia was tested for the p.GLY428Asp variant in <i>EGFR</i> gene by real-time PCR. <b><i>Results:</i></b> The carrier frequency in the Roma ethnic group was 2.65%. <b><i>Conclusions:</i></b> 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 <i>EGFR</i> gene is a major health concern of the Roma populations in Slovakia and neighboring regions.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Frequency of Epidermal Growth Factor Receptor Gene Variant in Roma Population.\",\"authors\":\"Soňa Mačeková, Matúš Mathia, Dana Dojčáková\",\"doi\":\"10.1089/gtmb.2023.0377\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b><i>Aims:</i></b> The pathogenic variant, p.GLY428Asp (c.1283G-A), in the epidermal growth factor receptor (<i>EGFR</i>) 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. <b><i>Methods:</i></b> A population sample of 1321 unrelated healthy individuals of Roma origin from Slovakia was tested for the p.GLY428Asp variant in <i>EGFR</i> gene by real-time PCR. <b><i>Results:</i></b> The carrier frequency in the Roma ethnic group was 2.65%. <b><i>Conclusions:</i></b> 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 <i>EGFR</i> gene is a major health concern of the Roma populations in Slovakia and neighboring regions.</p>\",\"PeriodicalId\":12603,\"journal\":{\"name\":\"Genetic testing and molecular biomarkers\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2023-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetic testing and molecular biomarkers\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1089/gtmb.2023.0377\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetic testing and molecular biomarkers","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1089/gtmb.2023.0377","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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.
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