Danieli G A, Mostacciuolo M L, Pilotto G, Angelini C, Bonfante A
Hum Genet. 1980;54(1):63-8. doi: 10.1007/BF00279050.
In an extensive epidemiological survey of Duchenne muscular dystrophy carried out in Venetia (Italy) the incidence was found to be 28.2 X 10(-5) and female gamete mutation rate was estimated by the direct method between 61 and 35 X 10(-6). The percentage of isolated cases was 0.54. Indirect and direct estimates of this proportion suggest, however, that only a minor fraction arises from maternal mutation (from 0.11 to 0.18 of the total number of cases). Studies on pedigrees collected in the course of the survey indicate that there is a higher frequency of Duchenne carrier females than normal females in affected sibships. Additional evidence supporting the hypothesis of a reproductive heterozygote advantage and gametic selection is reported.
在意大利威尼托大区进行的一项关于杜兴氏肌营养不良症的广泛流行病学调查中，发病率为28.2×10⁻⁵，通过直接法估计女性配子突变率在61至35×10⁻⁶之间。散发病例的比例为0.54。然而，对这一比例的间接和直接估计表明，只有一小部分病例源于母系突变（占病例总数的0.11至0.18）。在调查过程中收集的系谱研究表明，在受影响的同胞关系中，杜兴氏携带者女性的频率高于正常女性。还报告了支持生殖杂合子优势和配子选择假说的其他证据。
