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

Yıl 2020, Cilt: 10 Sayı: 1, 108 - 110, 31.01.2020

Murat Kaya , Gülçin Bağatır Ozan Kıvanç Çefle , Şükrü Öztürk Şükrü Palanduz

https://doi.org/10.33631/duzcesbed.556258

Öz

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.

Anahtar Kelimeler

Infertility, balanced reciprocal translocation, t(1;6)

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

Öz

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

Anahtar Kelimeler

İnfertilite, dengeli resiprokal translokasyon, t(1;6)(p13p21.3)

Kaynakça

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