Burn J, Gibbens D
J Med Genet. 1979 Jun;16(3):210-4. doi: 10.1136/jmg.16.3.210.
It is suggested that the major genetic factor in determining the birth of children with neural tube defects may be a single X-linked gene. It acts as an X-linked dominant, not by producing neural tube defects, but by enabling the affected fetus to survive selective spontaneous abortion. This mechanism, mediated at the deciduoplacental junction, may be under the control of both maternal and fetal genes. With more mutant alleles, survival would become more likely, reaching a maximum in the homozygous affected female fetus of a homozygous affected mother. The female excess in anancephaly is greater than that in spina bifida because of its prenatal severity, thus requiring relatively more mutant alleles for survival.
有人认为,决定神经管缺陷患儿出生的主要遗传因素可能是一个单一的X连锁基因。它作为X连锁显性基因,并非通过产生神经管缺陷起作用,而是使受影响的胎儿能够在选择性自然流产中存活下来。这种在蜕膜-胎盘交界处介导的机制可能受母体和胎儿基因的共同控制。突变等位基因越多,存活的可能性就越大,在纯合患病母亲的纯合患病女性胎儿中达到最大值。无脑儿中女性比例高于脊柱裂,因为前者产前病情更严重,因此存活需要相对更多的突变等位基因。