Murat KAYA, Gülçin BAĞATIR OZAN, Kıvanç ÇEFLE, 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 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)

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.

Keywords:

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

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1. Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singapore Med J. 2009; 50(4): 336-47.
2. Theisen A, Shaffer LG. Disorders caused by chromosome abnormalities. Appl Clin Genet. 2010; 3: 159-74. doi: 10.2147/TACG.S8884.
3. De P, Chakravarty S, Chakravarty A. Novel balanced chromosomal translocations in females with recurrent spontaneous abortions: two case studies. J Hum Reprod Sci. 2015; 8(2): 114-7.
4. Utami KH, Hillmer AM, Aksoy I, Chew EG, Teo AS, Zhang Z, et al. Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders. PLoS One. 2014; 9(6): e90852.
5. Zhang H, Wang R, Li L, Jiang Y, Zhang H, Liu R. Clinical feature of infertile men carrying balanced translocations involving chromosome 10: case series and a review of the literature. Medicine (Baltimore). 2018; 97(15): e0452.
6. Paoloni-Giacobino A, Kern I, Rumpler Y, Djlelati R, Morris MA, Dahoun SP. Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility. Clin Genet. 2000; 58(4): 324-8.
7. Berner AL, Bağci S, Wohlleber E, Engels E, Müller A, Bartmann P, et al. Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature. Cytogenet Genome Res. 2012; 136(4): 308-13.
8. Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A. Role of genetics in azoospermia. Urology. 2011; 77(3): 598-601.
9. Jiang T, Wang Y, Zhu M, Wang Y, Huang M, Jin G, et al. Transcriptome-wide association study revealed two novel genes associated with nonobstructive azoospermia in a Chinese population. Fertil Steril. 2017; 108(6): 1056- 62.e4.
10. Sujit KM, Sarkar S, Singh V, Pandey R, Agrawal NK, Trivedi S, et al. Genome-wide differential methylation analyses identifies methylation signatures of male infertility. Hum Reprod. 2018; 33(12): 2256-67.
11. Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, et al. Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. Am J Hum Genet. 2013; 92(5): 760-6.
12. Truong BN, Moses EK, Armes JE, Venter DJ, Baker HW. Searching for candidate genes for male infertility. Asian J Androl. 2003; 5(2): 137-47.
13. Wang RX, Zhang HG, Pan Y, Chen S, Yue FG, Zhu DL, et al. Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling. Genet Mol Res. 2016; 15(4): 1-7. doi: 10.4238/gmr.15048707.
14. Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, et al. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet. 2014; 51(4): 264-7.
15. Dong Z, Wang H, Chen H, Jiang H, Yuan J, Yang Z, et al. Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med. 2017; 20(7): 697-707.