Gushchina L A, Golovachev G D
Genetika. 1982 Jul;18(7):1161-3.
The secondary sex ratio in 254 probands with anencephaly and spina bifida, their 138 sibs and 2492 relatives (sibs of mothers and fathers, sibs of grandmothers and grandfathers) was studied. In anencephaly, girls prevail (males - 29%, p less than 0.001), and in sibs of anencephalic male probands there is a predominance of males (males - 71%, p less than 0.05). The change in the sex ratio of the probands with spina bifida and their sibs is not significant. In anencephaly, a significant decrease of a male part is also found in the sibs of the probands' mothers (males - 42%, p less than 0.01), in the sibs of the probands' grandmothers and grandfaterhs by the maternal line (males - 45%, p less than 0.025 and males - 42%, p less than 0.01), and also in the sibs of the probands' grandmothers by the paternal line (males - 40%, p less than 0.01). A significant increase in the incidence of the spina bifida occulta is noted among the probands' fathers. The data obtained are in accordance with the hypothesis suggested by Timpson, on the three loci (linked with the X-chromosome by two loci) heredity of the neural tube defects.
对254例无脑儿和脊柱裂先证者、他们的138名同胞以及2492名亲属(父母的同胞、祖父母的同胞)的第二性比进行了研究。在无脑儿中,女孩占优势(男性占29%,p<0.001),而在无脑儿男性先证者的同胞中,男性占优势(男性占71%,p<0.05)。脊柱裂先证者及其同胞的性比变化不显著。在无脑儿中,在先证者母亲的同胞中(男性占42%,p<0.01)、在先证者外祖母和外祖父母系的同胞中(男性分别占45%,p<0.025和42%,p<0.01)以及在先证者祖父母父系的同胞中(男性占40%,p<0.01),男性比例也显著下降。在先证者的父亲中,隐性脊柱裂的发病率显著增加。获得的数据符合廷普森提出的关于神经管缺陷的三个位点(其中两个位点与X染色体连锁)遗传的假说。