Elçin Latife KURTOĞLU, Gonca GÜLBAY, Elif YEŞİLADA, İbrahim TEKEDERELİ

Ankilozan Spondilit Düşünülen Olgularda HLA-B27 ve CYP2D64 Allellerinin Sıklığı

Ankilozan spondilit AS , birincil olarak spinal ve sakroiliak eklemleri etkileyen ve oldukça yaygın olan kronik inflamatuar artropatidir. HLA-B*27, AS ile güçlü ilişkisinden dolayı en fazla çalışılan HLA sınıf I allellerinden biridir. HLA genleri dışında Sitokrom P450 2D6 CYP2D6 geninin zayıf metabolize edici genotipinin de AS ile ilişkili olduğu belirtilmektedir. Bu çalışmada, Tıbbi Biyoloji ve Genetik Anabilim Dalı’na AS ön tanısı ile refere edilen olgularda HLA-B*27 ve CYP2D6*4 allellerinin dağılımını belirlemek amaçlanmıştır. Bu amaçla periferal kandan izole edilen DNA’dan HLA-B*27 ve CYP2D6*4 allelerine özgü bölgelerin polimeraz zincir reaksiyonu ile amplifiye edilmesinin ardından ters hibridizasyon yöntemi kullanılarak çalışılmış ve sonuçlar analiz edilmiştir. Bölgemiz için ilk kez rapor edilen bulgularımıza göre 336 olgu arasında, 119’unun %35.41 yalnızca HLA-B*27 alleline sahip olduğu belirlenmiştir. CYP2D6*4 mutasyonu bakımından ise olguların 66’sının %19.64 heterozigot, 6’sının %1.78 homozigot olduğu ve 264’ünün %78.57 ise CYP2D6*4 allelini taşımadığı bulunmuştur. Tüm olguların 31 tanesinde %9.22 ise HLA-B*27 ve CYP2D6*4 allellerinin birlikte bulunduğu belirlenmiştir

Anahtar Kelimeler:

HLA-B27, CYP2D64, Ankilozan Spondilit

The Frequencies of CYP2D64 and HLA-B27 Alleles in Cases of Suspected Ankylosing Spondylitis

Ankylosing spondylitis AS is common chronic inflammatory arthropathy that primarily affects the spinal joints and sacroiliac joints. HLA-B*27 has been one of the most studied HLA class I allele because of its strong association with AS. Outside HLA genes, poor metabolizer genotype of Cytochrome P450 2D6 CYP2D6 gene are also reported to be associated with AS. In this study, it was aimed to determine the distribution of HLA-B*27 and CYP2D6*4 alleles in patients with the prediagnosis of AS that referred to Medical Biology and Genetics Department. For this purpose, reverse hybridization was studied and results were analyzed after the amplification with PCR of HLA-B*27 and CYP2D6*4 allel specific regions from DNA that isolated from the peripheral blood. According to our findings which are reported the first time in our region, among the 336 patients, we determined 119 35.41% cases had only HLA-B27 allele. In respect to CYP2D6*4 mutation, 66 19.64% of cases were heterozygous, 6 1.78% of the cases were homozygous and 264 %78.57 of the cases had no CYP2D6*4 allele were determined. Moreover, we observed that in all of the cases, 31 9.22% cases had both HLA-B*27 and CYP2D6*4 allele together

Keywords:

HLA-B27, CYP2D64, Ankylosing spondylitis,

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