色盲和衰老的遗传学

François Schächter , Michel Foulon , Michel Poulain
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摘要

为了测试导致色觉缺陷的突变是否更频繁地遗传自年长的父亲,对那慕尔地区的新生儿进行了详尽的筛查,分离出225名在女儿出生时年龄超过45岁的外祖父的后代。将这组病例与三个独立家庭的959名男孩的色觉缺陷发生率进行比较。虽然这些比较不是结论性的,但我们提出了关于色觉缺陷群体动态的新假设。X连锁色素基因的突变可能是X染色体总体遗传负荷的一个标志。对这种负载X染色体的选择可能发生在第二代,要么在胚胎发生过程中,要么在雌性配子体发生过程中。这些新假设的未来评估依赖于分子遗传学的仲裁。
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Le daltonisme et la génétique du vieillissement

In order to test whether mutations giving rise to color vision deficiencies are more frequently inherited from older fathers, an exhaustive screening of births in the Namur region has allowed to isolate a sample of 225 descending sons of maternal grandfathers who were older than 45 years at their daughter’s birth. The incidence of color vision defects was compared between this set of cases and three control groups totalling 959 boys from independent families. While these comparisons were not conclusive, we propose new hypotheses concerning the population dynamics of color vision deficiencies. Neomutations in X-linked pigment genes may be a marker of the overall genetic load borne by the X chromosome. Selection against such loaded X chromosomes may occur in the second generation, either in the course of embryogenesis, or during female gametogenesis. The future assessment of these novel hypotheses relies on the arbitration of molecular genetics.

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