Tekrarlayan spontan abortusları olan çiftlerde genetik araştırmalar

Bu araştırma akraba evlisi olmayan iki ya da daha fazla spontan abortus öyküsü olan çiftlerdeki kromozom düzensizliklerini ve bunların sıklığını belirlemek amacıyla planlanmıştır. Çalışmada 434 çifttin sitogenetik incelemesi gerçekleştirilmiş, kromozom düzensizliği saptananların pedigri analizi yapılarak ulaşılabilen akrabalarında aynı düzensizliğin varlığı araştırılmıştır. Sitogenetik analiz için periferik kan kültürü yöntemi uygulanmış, hazırlanan preparatlar Giemsa-bantlama tekniği ile boyanarak her birey için 20-30 hücredeki kromozomlar sayılmış ve en az 5-10 bantlı metafazdan karyotip yapılarak varsa sayısal ve yapısal kromozom düzensizliğinin hangi grup kromozomu tuttuğu saptanmaya çalışılmıştır. Kromozom analizi yapılan 434 çiftin 30’ unda (% 6.91), eşlerden birinde kromozom düzensizliği bulunmuştur. Onüç çiftte (%2.99) eşlerden birinin dengeli translokasyon taşıyıcısı olduğu saptanmıştır. Bunların 7’sinin (% 1.61) resiprokal , 6’ sının (% 1.38) Robertson tipi dengeli translokasyon taşıyıcısı olduğu görülmüştür. Üç çiftte (% 0.69) gonozomal mozaisizm, 8 çiftte (%1.85) perisentrik 9 inversiyonu, 6 çiftte eşlerden birinde farklı kromozom kuruluşu saptanmıştır. Genel populasyondaki düzensizliklerden daha büyük sıklıkla görülmesi bu kromozomal düzensizliklerin abortuslara neden olmada büyük bir öneme sahip olabileceklerini düşündürmüştür.

Anahtar Kelimeler:

Düşük, kendiliğinden, Genetik araştırma

Genetic screening of couples with recurrent spontaneous abortion

The aim of this study was to determine the chromosomal abberations and their incidence in non-consanguineous couples with a history of two or more than two spontaneous abortion. In the study, we carried out cytogenetic analysis on 434 couples. Patients detected with chromosome abnormality were evaluated according to their pedigree analysis, and also patients’ relatives were screened for the same abnormality. Peripheral blood were taken from patients, then performed with lymphocyte culture and stained by binded using Giemsa-banding method. For each individual, 20- 30-cells chromosomes were counted and around 5-10 well-binded metaphase chromosomes were karyotyped for numerical and structural chromosomal aberrations. Of 434 couples investigated, 30 (6.91%) were found to have chromosomal abnormality, in one of couples partners. In 13 of couples (2.99%), one of partners was found to be balanced translocation carrier. Of these, 7 (1.61%)were found to be reciprocal carrier, while 6 (1.38%) Robertsonian-type balanced translocation carrier. Gonadal mosaicism was found in 3 couples (0.69%), pericentric 9 inversion in 8 couples (1.85 %), while 6 couples showed different chromosomal structure from each other. These chromosomal aberrations may cause of abortion due to high incidence in general population.

Keywords:

Abortion, Spontaneous, Genetic Research,

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