Interchromosomal effects in Robertsonian and reciprocal transloctions, inversions Carriers and Exhibit a Mitotic Interchromosomal Effect That Enhances Genetic Instability during Early Development
محل انتشار: ششمین سمینار یکروزه ژنتیک پزشکی تشخیصی- تحقیقی
سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 515
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شناسه ملی سند علمی:
GMED06_001
تاریخ نمایه سازی: 22 مهر 1398
چکیده مقاله:
Carriers of structural chromosomal anomalies, translocations and inversions are at increased risk of aneuploid gametes production. Besides the direct effect on the involved chromosomes, these rearrangements might disturb the segregation of other structurally normal chromosomes during meiosis. Such event is known as interchromosomal effect. It has also been suggested that the presence of chromosome rearrangements may also cause an increase in aneuploidy affecting structurally normal chromosomes, due to disruption of chromosome alignment on the spindle or disturbance of other factors related to meiotic chromosome segregation. The existence of such a phenomenon (an interchromosomal effect—ICE) remains controversial, with different studies presenting contradictory data. The current investigation aimed to demonstrate conclusively whether an ICE truly exists. Surprisingly, the ICE was clearly detected in early embryos from female carriers, but not in oocytes, indicating the possibility of mitotic rather than the previously suggested meiotic origin. Karyotyping of G-banded chromosomes from leukocyte cultures for all the subjects were made and analysed using IKaros software (Metasystems). In this study, 22 carriers of translocations were investigated that was 14 reciprocals and 8 Robertsonians, Also 42 carriers of inversion 9 and 6 carriers of other inversions.We investigated them for infertility,abortion and Mental Retardation.
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نویسندگان
Malieha Khaleghian
Ph.D in Medical genetic