Gamete segregation in female carriers of Robertsonian translocations.

S Munné, T Escudero, M Sandalinas, D Sable, J Cohen
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引用次数: 60

Abstract

Eleven female carriers of either 45,XX,der(13;14) (q10;q10) or 45,XX, der(14;21)(q10;q10) underwent hormonal stimulation with the purpose of producing enough oocytes for in-vitro fertilization and preimplantation genetic diagnosis. Polar body biopsy was performed in those oocytes and FISH with painting probes was applied in their metaphase-like first polar body chromosomes. In this way, unbalanced, normal and balanced oocytes could be distinguished and segregation modes ascertained. der(14;21)(q10;q10) produced 42% unbalanced, 37% normal and 21% balanced oocytes (n = 86) while der(13;14)(q10;q10) generated 33% unbalanced, 51% normal and 16% balanced oocytes (n = 69). In both translocations the number of normal oocytes was significantly higher than the number of balanced oocytes. However, while the frequency of unbalanced events involving chromosome 13 and 14 was similar in der(13;14)(q10;q10), there were significantly more abnormalities involving chromosome 21 than 14 in the der(14;21) (q10;q10) cases. When comparing survival rates to term, trisomies from Robertsonian origin seem to survive more often than those originated by non-disjunction in non-translocation carriers. The meiotic segregation patterns found in female Robertsonian translocations are different from those described in male carriers, with higher rates of unbalanced gametes in females than in males.

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罗伯逊易位女性携带者的配子分离。
11名45,XX,der(13;14) (q10;q10)或45,XX,der(14;21)(q10;q10)的女性携带者接受了激素刺激,目的是产生足够的卵母细胞用于体外受精和着床前遗传学诊断。对这些卵母细胞进行极体活检,并在其中期样的第一极体染色体上应用FISH染色探针。通过这种方法可以区分不平衡、正常和平衡的卵母细胞,并确定分离方式。Der (14;21)(q10;q10)产生42%不平衡、37%正常和21%平衡的卵母细胞(n = 86),而Der (13;14)(q10;q10)产生33%不平衡、51%正常和16%平衡的卵母细胞(n = 69)。在这两种易位中,正常卵母细胞的数量明显高于平衡卵母细胞的数量。然而,尽管在der(13;14)(q10;q10)中涉及13号染色体和14号染色体的不平衡事件的频率相似,但在der(14;21) (q10;q10)病例中涉及21号染色体的异常明显多于14号染色体。当比较存活率和足月存活率时,来自罗伯逊的三体似乎比那些来自非易位携带者的非分离的三体更容易存活。在女性罗伯逊易位中发现的减数分裂分离模式与男性携带者不同,女性配子不平衡的比例高于男性。
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