Diyarbakır yöresi Ailevi Akdeniz Ateşli çocuklarda MEFV gen mutasyon sıklıkları
Yükleniyor...
Tarih
2009
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Dicle Üniversitesi Tıp Fakültesi
Erişim Hakkı
Attribution-NonCommercial 3.0 United States
info:eu-repo/semantics/openAccess
info:eu-repo/semantics/openAccess
Özet
Ailevi Akdeniz Ateşi otozomal resesif bir hastalık olup, periyodik karın ağrısı, ateş ve eklem ağrısı ile karakterizedir. Ailevi Akdeniz Ateşinden sorumlu tutulan MEFV geninde bir çok mutasyon belirlenmiştir.
Bu çalışmamızda klinik olarak Ailevi Akdeniz Ateşi şüphesi taşıyan toplam 332 çocuktan DNA örnekleri alındı ve 12 MEFV mutasyonu [E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H] ters hibridizasyon yöntemi ile yapıldı. Toplam 113 çocukta (ortalama yaş: 11.5 yıl) mutasyon tespit edildi. E148Q mutasyonu 60 çocukta (4 tanesi homozigot), M694V mutasyonu (4 tanesi homozigot) 19 çocukta, P369S mutasyonu (homozigot mutasyon yoktu) 16 hastada ve V726A mutasyonu (homozigot mutasyon yoktu) 13 çocukta tespit edildi. Ancak Ailevi Akdeniz Ateşi şüphesi ile mutasyon analizi istenen 332 çocuktan toplam olarak 104’ünde tanı kriterlerine göre hastalığın tanısı klinik olarak doğrulandı. Ailevi Akdeniz Ateşi tanısı alan hastalarda gen mutasyonları sıklık sırasına göre; E148Q (%30.8), M694V (%18.3), P369S (%10.6), V726A (%8.6), A744S (%2.9), R761H (%2.9), M694I (%1.9), K695R (%1.9) ve I692del (%1.0). Ailevi Akdeniz Ateşi tanısı konan hastaların 15’inde (%14.4) hiçbir mutasyon saptanmazken, 13’ünde (%12.5) iki farklı mutasyon aynı anda belirlenerek bileşik heterezigot olarak tanımlandı. Sonuç olarak hastalarımızda E148Q mutasyonuna, normalde en sık görülen M694V mutasyonundan daha sık rastlandı. Bu farklılık demografi k yapı veya metot ile ilişkili olabilir.
Familial Mediterranean Fever (FMF) is an autosomal recessive disease that clinically characterized by periodic abdominal pain, fever and arthralgia. Wide variety of mutations have been described in MEFV gene which is known to be responsible from FMF. In present study, 12 MEFV mutations [E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H] have been screened. DNA samples were obtained from a total of 332 children, who were clinically suspected as FMF. Mutation analyses of MEFV gene were carried out with reverse hybridization method. In 113 children (mean age 11.5 years), mutations have been detected. In 60 children E148Q (4 homozygous), in 19 M694V (4 homozygous), in 16 P369S (none), and in 13 children V726A (none homozygous) mutations were detected. Among Familial Mediterranean Fever -suspected 332 children 104 fulfi lled diagnostic criteria for FMF and detected MEFV gene mutations with decreasing frequency were; E148Q (30.8%), M694V (18.3%), P369S (10.6%), V726A (8.6%), A744S (2.9%), R761H (2.9%), M694I (1.9%), K695R (1.9%) and I692del (1.0%), respectively. No mutation was detected in 15 (14.4%) FMF children while, two different MEFV mutations were detected together in 13 (12.5%) patients and these patients were accepted as a compound heterozygous. In conclusion, in our patients E148Q mutation was found higher than M694V mutation that has been detected commonly in patients with FMF. The difference may result from demographic features or used methods.
Familial Mediterranean Fever (FMF) is an autosomal recessive disease that clinically characterized by periodic abdominal pain, fever and arthralgia. Wide variety of mutations have been described in MEFV gene which is known to be responsible from FMF. In present study, 12 MEFV mutations [E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H] have been screened. DNA samples were obtained from a total of 332 children, who were clinically suspected as FMF. Mutation analyses of MEFV gene were carried out with reverse hybridization method. In 113 children (mean age 11.5 years), mutations have been detected. In 60 children E148Q (4 homozygous), in 19 M694V (4 homozygous), in 16 P369S (none), and in 13 children V726A (none homozygous) mutations were detected. Among Familial Mediterranean Fever -suspected 332 children 104 fulfi lled diagnostic criteria for FMF and detected MEFV gene mutations with decreasing frequency were; E148Q (30.8%), M694V (18.3%), P369S (10.6%), V726A (8.6%), A744S (2.9%), R761H (2.9%), M694I (1.9%), K695R (1.9%) and I692del (1.0%), respectively. No mutation was detected in 15 (14.4%) FMF children while, two different MEFV mutations were detected together in 13 (12.5%) patients and these patients were accepted as a compound heterozygous. In conclusion, in our patients E148Q mutation was found higher than M694V mutation that has been detected commonly in patients with FMF. The difference may result from demographic features or used methods.
Açıklama
Anahtar Kelimeler
Ailevi Akdeniz ateşi, MEFV geni, Mutasyon analizi, Sıklık, Tanı, Familial Mediterranean fever, MEFV gene, Mutation analysis, Frequency, Diagnosis
Kaynak
Dicle Tıp Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
36
Sayı
2
Künye
Evliyaoğlu, O., Bilici, S., Yolbaş, İ., Kelekçi, S. ve Şen, V. (2009). Diyarbakır yöresi Ailevi Akdeniz Ateşli çocuklarda MEFV gen mutasyon sıklıkları. Dicle Tıp Dergisi, 36(2), 80-84.
