Screening of the HFE gene mutations in Turkish patients with cryptogenic cirrhosis and hemochromatosis.
Objective: The aim of this study was to determine the prevalence of the HFE gene mutations (C282Y, S65C and H63D) in patients with cryptogenic cirrhosis, hemochromatosis and healthy controls. Material and Methods: The exon 2 and exon 4 of the HFE gene were amplified by polymerase chain reaction (PCR...
| Publicado en: | Turkiye Klinikleri Journal of Medical Sciences Vol. 30; no. 6; pp. 1891 - 1896 |
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| Autores principales: | , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Turkiye Klinikleri
Dec2010
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104812778&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104812778 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 13000292 1VOP jtl: Turkiye Klinikleri Journal of Medical Sciences issn: 13000292 maglogo: N pubinfo: dt: Dec2010 vid: 30 iid: 6 pid: 67298 pub: Turkiye Klinikleri artinfo: ui: 104812778 104812778 2010937918 10.5336/medsci.2009-15088 104812778 ppf: 1891 ppct: 5 formats: fmt: @attributes: type: P tig: atl: Screening of the HFE gene mutations in Turkish patients with cryptogenic cirrhosis and hemochromatosis. aug: au: Öztürk, Saffet Dikici, Hilmi Dinçer, Dinc Lüleci, Güven Keser, Ibrahim affil: Departments of Medical Genetics, Gastroenterology, Akdeniz University Faculty of Medicine, Antalya sug: subj: Genes Genetic Screening Hemochromatosis Familial and Genetic Liver Cirrhosis Familial and Genetic Mutation Adult Aged Alleles Case Control Studies Descriptive Statistics DNA Analysis Female Funding Source Genotype Human Male Middle Age Polymerase Chain Reaction Polymorphism, Genetic Random Sample Turkiye Adult: 19-44 years Aged: 65+ years Middle Aged: 45-64 years Female Male ab: Objective: The aim of this study was to determine the prevalence of the HFE gene mutations (C282Y, S65C and H63D) in patients with cryptogenic cirrhosis, hemochromatosis and healthy controls. Material and Methods: The exon 2 and exon 4 of the HFE gene were amplified by polymerase chain reaction (PCR) in the DNA samples of 18 cryptogenic cirrhotic and 11 hemochromatosis patients, and 141 healthy control individuals.Then the restriction fragment length polymorphism (RFLP) method was used to detect the mutations. Results: The frequencies of C282Y, S65C and H63D mutations were found as 0.0, 0.0, 0.12 respectively in healthy Turkish population and 0.0, 0.0, and 0.11 respectively in cryptogenic cirrhotic patients. We also screened 11 hemochromatosis patients for these mutations, and the frequencies of the mutations were found as 0.0 for C282Y, 0.0 for S65C, and 0.27 for H63D mutation. There was no difference between the control group and cryptogenic cirrhosis group. However, we found differences in the frequency of the H63D mutation between the control group and hemochromatosis group. Conclusion: The frequencies of the C282Y and S65C mutations were found as 0.0 in Turkish population and in the patients with cryptogenic cirrhosis similar to other Asian populations. However, the frequency of the H63D mutation was higher than previously reported in Asian populations. These results suggest that the H63D mutation may be responsible for the hereditary hemochromatosis in Turkish population. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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