Roses A D, Roses M J, Metcalf B S, Hull K L, Nicholson G A, Hartwig G B, Roe C R
Ann Neurol. 1977 Oct;2(4):271-8. doi: 10.1002/ana.410020403.
Female relatives of 41 Duchenne muscular dystrophy proband cases were studied with a panel of carrier-detection tests. A total of 277 relatives were tested in order to determine which mothers had affected sons as a result of new mutation. In 39 of 41 pedigrees the data demonstrate that a mutation cannot be postulated; the 2 megative pedigrees were inadequately tested. Our data suggest that all mothers of affected sons should be considered genetic carriers (heterozygotes) until proved otherwise. Our findings also raise questions concerning what mechanisms skew the indirect statistical estimates of mutation that are in common use.
对41例杜氏肌营养不良先证者的女性亲属进行了一系列携带者检测试验研究。总共检测了277名亲属，以确定哪些母亲所生的患病儿子是新突变所致。在41个家系中的39个家系中，数据表明无法假定存在突变；另外2个阴性家系检测不充分。我们的数据表明，在得到其他证明之前，所有患病儿子的母亲都应被视为基因携带者（杂合子）。我们的研究结果还引发了一些问题，即目前常用的突变间接统计估计是由何种机制造成偏差的。
