Agustos 2009

Kriptojenik ve HBV iliskili sirozda HFE gen mutasyonlari

HFE gene mutations in cryptogenic and HBV related cirrhosis

Yazarlar
Yekta TÜZÜN1, Mustafa YAKUT2, Mehmet DURSUN1, Kadim BAYAN1, Serif YILMAZ1, Sabri BATUN3, Bilge DEVECIOGLU3
Kurumlar
Dicle Üniversitesi Tip Fakültesi Gastroenteroloji Bilim Dali1, Biyokimya Bilim Dali3, Diyarbakir
Ankara Üniversitesi Tip Fakültesi Gastroenteroloji Bilim Dali2, Ankara
Sayfa Numaraları
69-73
Makale Türü
Anahtar Kelimeler
Hemokromatozis, HFE gen mutasyonlar?, kriptojenik siroz
Keywords
Hemochromatosis, HFE gene mutations, cryptogenic cirrhosis

Özet

Giris ve Amaç: Karaciger herediter hemokromatoziste etkilenen organlarin basinda gelmektedir. Karaciger sirozunda 2 önemli alt baslik olan kriptojenik siroz ile Hepatit B Virus (HBV) iliskili sirozda HFE gen mutasyonlari ile ilgili kisitli bilgiye sahibiz. Bu hasta gruplarinda HFE gen mutasyonlarini inceledik. Gereç ve Yöntem: Çalismaya 58 sirozlu hasta alindi. Hastalar esit sayida 2 gruba ayrildi. 1.grubu kriptojenik sirozlar; 2. grubu HBV zemininde gelisen sirozlular olusturdu. Her iki grupta HFE geninin 12 mutasyonuna bakildi: V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, Q282P. Bulgular: 58 hastanin 18?i kadin, 40?i erkekti. Ortalama yas 1. grupta 44.35±20.6; 2. grupta 49.39±12.17 idi. Iki grup arasinda istatistiksel anlamli fark yoktu (p=0.230). Kriptojenik sirozlularda toplam allelik H63D mutasyon orani %24.13 (7/29) bulundu. Bir hastada (1/29; %3.44) C282Y heterozigot mutasyonu saptandi. Ikinci grupta toplam allelik mutasyon oran %20.68 (6/29) idi. Mutant hasta sayisi itibariyle iki grup arasinda istatistiksel anlamli farklilik saptanmadi (p=1.0). H63D ve C282Y mutasyonlarinin total prevalansi sirasiyla %22.4 (13/58) ve %1.72 (1/58) olarak saptandi. H63D homozigotlugu %3.44 (2/58), heterozigotlugu %18.96 (11/58) siklikta saptandi. Sonuç: Kriptojenik ve HBV sirozlularda HFE gen mutasyonu oranlari benzer bulundu. C282Y mutasyonu bölgemizde ilk kez bu çalisma ile ortaya kondu.

Abstract

Background/aims: The liver leads the list among the affected organs in hereditary hemochromatosis. We have limited knowledge about HFE gene mutations in cryptogenic cirrhosis and hepatitis B virus -related cirrhosis, which are the two important sub-titles in liver cirrhosis. We studied HFE gene mutations in these patient groups. Methods: Fiftyeight patients with cirrhosis were included in the study. The patients were divided into two equal groups. Group 1 consisted of patients with cryptogenic cirrhosis and Group 2 of patients with cirrhosis appearing on the base of hepatitis B virus . The following 12 mutations of the HFE gene were studied in both groups: V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, and Q282P. Results: Eighteen patients were female and 40 were male. The average age in the first group was 44.35±20.6 and in the second group was 49.39±12.17; there was no statistically significant difference between the groups (p=0.230). In the cryptogenic cirrhosis patients, the total rate of allelic H63D mutation was found as 24.13% (7/29). C282Y heterozygote mutation was determined in one patient (1/29; 3.44%). In the second group, total allelic mutation rate was 20.68% (6/29). No statistically significant difference was determined between the two groups with respect to mutation rates (p=1.0). The total prevalences of H63D and C282Y mutations were found as 22.4% (13/58) and 1.72% (1/58), respectively. H63D homozygosity was found as 3.44% (2/58) and heterozygosity as 18.96% (11/58). Conclusions: The HFE gene mutation rates in cryptogenic and hepatitis B virus cirrhosis were found to be similar. C282Y mutation has been put forward in this study for the first time in our area.

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