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首页> 外文期刊>Twin research and human genetics : >Use of Bayes' formula to make a genetic risk estimate.
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Use of Bayes' formula to make a genetic risk estimate.

机译：使用贝叶斯公式进行遗传风险估计。

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Izabella and her partner sought pre-implantation genetic diagnosis (PGD) because Izabella had retinoblastoma due to a deletion in chromosome 13 and they want to have children not at genetic risk of retinoblastoma. Fortunately, Izabella's tumor was unilateral and was treated successfully and she is well. Izabella's chromosome abnormality is mosaic with 70% of lymphocytes having the deletion. This mosaicism may not be present in Izabella's ovaries. The couple went through PGD on two occasions and 13 embryos were tested. None had the deleted chromosome 13. IVF and PGD failed to produce a pregnancy. The couple wished to know what the experience provides as to the risk to their offspring: in particular, does it indicate a risk low enough to be acceptable if they go ahead with a natural pregnancy instead of another resort to PGD? Also, the couple did not want prenatal diagnosis. The situation therefore requires an estimate of the probability that an embryo will have the deletion. Counseling is problematic because there is no obvious way of selecting a prior probability from which to compute a Bayesian estimate of risk. Two solutions are offered, depending on the amount of information available about genes transmitted from the maternal grandparents.
机译：伊扎贝拉和她的伴侣寻求植入前遗传学诊断（PGD），因为伊扎贝拉由于13号染色体的缺失而患有视网膜母细胞瘤，并且他们希望孩子没有成视网膜母细胞瘤的遗传风险。幸运的是，伊扎贝拉的肿瘤是单侧的，已经成功治疗，而且她状况良好。伊扎贝拉的染色体异常是马赛克，其中70％的淋巴细胞缺失。这种马赛克可能并不存在于伊莎贝拉的卵巢中。这对夫妇两次经历了PGD，并测试了13个胚胎。没有一个人的13号染色体被删除。IVF和PGD未能怀孕。这对夫妇希望知道有关其后代风险的经验如何：特别是，如果他们继续自然怀孕而不是再次使用PGD，这是否表明该风险足够低，可以接受？另外，这对夫妇不希望产前诊断。因此，这种情况需要估计胚胎具有缺失的可能性。咨询是有问题的，因为没有明显的方法来选择用于计算贝叶斯风险估计的先验概率。提供了两种解决方案，具体取决于从祖父母祖父母那里传来的基因的可用信息量。

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