[极体诊断]。

Gynakologisch-geburtshilfliche Rundschau Pub Date : 2009-01-01 Epub Date: 2009-03-25 DOI:10.1159/000197904
M Montag, K van der Ven, H van der Ven
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引用次数: 4

摘要

极体诊断是一种对卵母细胞进行间接遗传分析的诊断方法。极体是减数分裂细胞周期的副产物,对胚胎的进一步发育没有影响。极体的活检可以在很短的时间内通过带状钻孔或激光钻孔来完成。父系对发育中的胚胎遗传构成的贡献不能通过PBD来诊断。PBD的主要应用是检测母源性染色体非整倍体和卵母细胞易位。对于这些适应症,PBD可能是一种可行的卵裂球活检替代方法,因为与卵裂球活检的着床前遗传学诊断相比,胚胎的完整性不受影响。分子诊断领域的快速发展也将影响PBD,并可能在未来实现更广泛的诊断。
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[Polar body diagnosis].

Polar body diagnosis (PBD) is a diagnostic method for the indirect genetic analysis of oocytes. Polar bodies are by-products of the meiotic cell cycle which have no influence on further embryo development. The biopsy of polar bodies can be accomplished either by zona drilling or laser drilling within a very short time period. The paternal contribution to the genetic constitution of the developing embryo cannot be diagnosed by PBD. The major application of PBD is the detection of maternally derived chromosomal aneuploidies and translocations in oocytes. For these indications, PBD may offer a viable alternative to blastomere biopsy as the embryo's integrity remains unaffected in contrast to preimplantation genetic diagnosis by blastomere biopsy. The fast development in the field of molecular diagnostics will also influence PBD and probably allow a more general diagnosis in the future.

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