Kıvanç ÇEFLE, Murat KAYA, Gülçin BAĞATIR OZAN, Şükrü ÖZTÜRK, Şükrü PALANDUZ

De novo t(1;6)(p13p21.3) Dengeli Resiprokal Translokasyonun İnfertilite ile İlişkisi

İnfertilite tüm dünyada çiftlerin yaklaşık %15’ini etkileyen önemli bir sağlık sorunudur. İnfertilite hem erkek hem dekadın kaynaklı faktörler ile ortaya çıkabilir. Vakaların yaklaşık %40’ında tiyoloji belirsizdir. Dengeli resiprokaltranslokasyonlar, insanlarda en yaygın olarak karşılaşılan yapısal kromozom anomalileridir ve infertilite ile yakındanilişkilidir. Dengeli resiprokal translokasyonlar çoğunlukla taşıyıcıların fenotipini etkilemez ancak kromozomal olarakdengesiz gamet oluşturma yönünden bu kişiler anlamlı şekilde artmış riske sahiptir. 6p21.3 kromozomal bölgesiinfertilite ile ilişkili birçok geni barındırmaktadır. 6p21.3 bölgesini içine alan dengeli resiprokal translokasyonlargenellikle infertilite ile ilişkilendirilmiştir. Bu çalışmada bilim dalımıza infertilite nedeni ile refere edilen çiftten yapılankaryotip analizi sonucunda erkekte tespit ettiğimiz t(1;6)(p13p21.3) dengeli resiprokal translokasyonun infertiliteyleilişkisi üzerinde durulmuştur.

The Relationship Between De novo t(1;6)(p13p21.3) Balanced Reciprocal Translocation and Infertility

Infertility is an important health problem affecting about 15% of couples all over the world. Infertility can occur because of a combined etiology where both female and male factors are combined. In nearly 40% of the patients, the etiology is unclear. Balanced reciprocal translocations are the most common structural chromosomal abnormalities in humans and they are closely related with infertility. Balanced reciprocal translocations mostly do not affect the phenotype of the carriers however, these individuals have a significantly increased risk in terms of chromosomally unstable gametes. The chromosomal region 6p21.3 contains many genes associated with infertility. Translocations involving the 6p21.3 chromosomal region are generally associated with infertility. In this study, the relationship between infertility and t(1;6)(p13p21.3) balanced reciprocal translocation was discussed.

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