Habituel abortus ve infertilite görülen çiftlerde C bantlama, CD bantlama ve nor bantlama tekniği ile sayısal ve yapısal kromozom anomalilerin araştırılması
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Tarih
2019
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Çanakkale Onsekiz Mart Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Tekrarlayan düşükleri olan çiftler toplumun %1'ini oluşturmaktadır. Bu anlamda çiftlerin etiyolojik sebeplerin dışında sitogenetik olarak da incelenmesi önemlidir. Genel olarak bakıldığında sayısal-yapısal kromozom abersiyonlarının oranı %5 civarındadır. Aynı zamanda 1-20 yıllık evli, en az 1 yıl düzenli ilişkiye girmelerine rağmen gebe kalamayan primer ve sekonder infertilitesi bulunan çiftlerin de sitogenetik açıdan değerlendirilmesi son derece önemlidir. İnfertil çiftlerin hormonal düzensizlik, immünoloji gibi sebeplerin dışında sayısal-yapısal kromozom anomalileri de sebep olarak gösterilebilir. Yapılan hücre kültürü esnasında görülen sayısal anomaliler trizomi, monozomi, anöploidi gibi toplam kromozom sayısında meydana gelen sapmalardır. Yapısal anomalilerin başında ise translokasyon, delesyon, inversiyon gibi başlıca morfolojik değişiklikler gelmektedir. Kromozom anomalilerin araştırılması için genel olarak GTG bant düzeyinde inceleme yapılmakta ve burada şüphenilen bir koromozom anomalisi durumunda diğer bant tekniklerine başvurulmalıdır. C bantlama, NOR bantlama ve CD bantlama teknikleriyle habituel abortus ve infertil çiftlerindeki kromozomlarındaki yapısal anomalileri tespit edilecektir. Yaptığımız araştırmada en az 2 tekrarlayan düşüğü olan 25 çift (50 kişi) hasta grubu ve en az 1 yıldır çocukları olmayan 25 çift (50 kişi) hasta grubu bulunmaktadır. Ayrıca infertilite ve abrtus tanısı ile gelmeyen 20 kişi kontrol hasta grubu bulunmaktadır. Karyotip analizleri yapılan çiftlerimize aynı zamanda C bantlama, CD bantlama ve NOR bantlama teknikleri de uygulanmış. Bu teknikler ile C bantlama yapılan çiftlerin 1, 9, 16 ve y kromozomların heterokromatin varlığı heterozigot, homozigot ve wild olarak değerlendirilmiş, NOR bantlama yapılan çiftlerimizin ise 13, 14, 15, 21 ve 22. kromozomların satellit varlığı değerlendirimiş ve CD bantlama ile tüm krozomların sentromer bölgelerindeki kinetekor varlığına bakılmak istenmiştir. Elde edilen verilere göre 1 ve 9 numaralı koromzom için C bant polimorfizm oranları 16 ve y kromzomuna göre yüksek oranda ve anlamlı çıkmıştır. 13, 14, 15, 21 ve 22 numaralı akrosentrik kromozomların NOR bant satellit polimorfizmine bakılmış, 15, 21 ve 22 numaralı kromzom NOR bant polimorfizmi diğerlerine göre anlamlı ve yüksek oranda saptanmıştır. CD bantlama laboratuvar koşulları ve teknik sebeplerden optimize edilememiştir.
Couples with recurrent miscarriages constitute 1% of the population. It is important that couples should be examined as cytogenetically except etiological reasons. In general, the rate of numerical- structural aberrations is around 5%. At the same time, cytogenetic evaluation of couples that have primary and secondary infertility who are married between 1 and 20 years, although they have had regular sexual intercourse for at least a year, is also very important. Infertile couples can have hor-monal disorders and for immunological causes. In addition, infertile couples can have numerical and structural chromosomal abnormalities. Deviations in the total number of chromosomes, such as monosomy and trisomy aneuploidy, are numerical abnormalities during preparing cell culture. Examples of structural abnormalities include morphological changes such as translocation, inversion and deletion. Chromosomal abnormalities are generally investigated at the GTG band level, and if there is a suspected chromosomal abnormality, other banding techniques should be used. C banding, NOR banding and CD banding techniques are used to detect structure abnormalities in chromosomes of habitual abortion of an infertile couple. In our examination, there are 25 couples (50 people) of patients with at least 2 recurrent miscarriages and 25 couples of patients without child for at least a year. Also, there are 20 people patients who have no miscarriage and have at least 2 children in patient group as control group. Karyotype analyses of the couples were performed, and at the same time, C banding, CD banding and NOR banding were applied. In C banding, presence of heterochromatin of the 1, 9, 16 and Y numbered chromosomes were separated as heterozygote, homozygote and wild. The aim of this examination is to evaluate the presence of satellites of chromosomes 13, 14, 15, 21 and 22 numbered on NOR banding. Furthermore, It was aimed to examine the presence of kinetochore on centromere regions of all chro-mosomes by CD banding. According to the data obtained, the C banding polymorphism rates for chromosome 1 and 9 numbered were high and significant compare to 16 and Y chromosome. NOR banding satellite polymorphism was investigated on 13, 14, 15, 21 and 22 numbered acrocentric chromosomes. NOR banding polymorphism on 15,21 and 22 numbered chromosomes were high and significant compare to others. CD banding could not be optimized for laboratory conditions and tech-nical regions.
Couples with recurrent miscarriages constitute 1% of the population. It is important that couples should be examined as cytogenetically except etiological reasons. In general, the rate of numerical- structural aberrations is around 5%. At the same time, cytogenetic evaluation of couples that have primary and secondary infertility who are married between 1 and 20 years, although they have had regular sexual intercourse for at least a year, is also very important. Infertile couples can have hor-monal disorders and for immunological causes. In addition, infertile couples can have numerical and structural chromosomal abnormalities. Deviations in the total number of chromosomes, such as monosomy and trisomy aneuploidy, are numerical abnormalities during preparing cell culture. Examples of structural abnormalities include morphological changes such as translocation, inversion and deletion. Chromosomal abnormalities are generally investigated at the GTG band level, and if there is a suspected chromosomal abnormality, other banding techniques should be used. C banding, NOR banding and CD banding techniques are used to detect structure abnormalities in chromosomes of habitual abortion of an infertile couple. In our examination, there are 25 couples (50 people) of patients with at least 2 recurrent miscarriages and 25 couples of patients without child for at least a year. Also, there are 20 people patients who have no miscarriage and have at least 2 children in patient group as control group. Karyotype analyses of the couples were performed, and at the same time, C banding, CD banding and NOR banding were applied. In C banding, presence of heterochromatin of the 1, 9, 16 and Y numbered chromosomes were separated as heterozygote, homozygote and wild. The aim of this examination is to evaluate the presence of satellites of chromosomes 13, 14, 15, 21 and 22 numbered on NOR banding. Furthermore, It was aimed to examine the presence of kinetochore on centromere regions of all chro-mosomes by CD banding. According to the data obtained, the C banding polymorphism rates for chromosome 1 and 9 numbered were high and significant compare to 16 and Y chromosome. NOR banding satellite polymorphism was investigated on 13, 14, 15, 21 and 22 numbered acrocentric chromosomes. NOR banding polymorphism on 15,21 and 22 numbered chromosomes were high and significant compare to others. CD banding could not be optimized for laboratory conditions and tech-nical regions.
Açıklama
Sağlık Bilimleri Enstitüsü, Tıbbi Genetik Ana Bilim Dalı
Anahtar Kelimeler
Genetik, Genetics
