无脑儿和脊柱裂中不断变化的基因模式。
Shifting genetic patterns in anencephaly and spina bifida.
作者信息
Janerich D T, Piper J
出版信息
J Med Genet. 1978 Apr;15(2):101-5. doi: 10.1136/jmg.15.2.101.
Abstract
The long-term decline in the incidence of the neural tube malformations, anencephaly and spina bifida (ASB), ended in the mid-1950's in New York State. Since that time, the rate of these birth defects has remained between 1 and 1.5/1000 births. In this low incidence population, we tested the basic tenets which support a genetic aetiology. We found that the full sib recurrence rate (1.8%) was higher than the half sib recurrence rate (0.8%) and the twin concordance rate (6.8%) was higher than the full sib recurrence rate. We found the incidence of ASB in twins to be the same as the incidence of ASB in singletons. Our findings are compatible with polygenic inheritance aetiology for ASB. The genetic molecular pathway of these birth defects may be identifiable through biochemical screening of families with one or more ASB children.
摘要
神经管畸形、无脑儿和脊柱裂（ASB）的发病率在纽约州于20世纪50年代中期结束了长期下降趋势。自那时起，这些出生缺陷的发生率一直保持在每1000例出生中有1至1.5例。在这个低发病率人群中，我们对支持遗传病因的基本原理进行了测试。我们发现全同胞复发率（1.8%）高于半同胞复发率（0.8%），双胞胎一致率（6.8%）高于全同胞复发率。我们发现双胞胎中ASB的发生率与单胎中ASB的发生率相同。我们的研究结果与ASB的多基因遗传病因相符。这些出生缺陷的遗传分子途径可能通过对有一个或多个ASB患儿的家庭进行生化筛查来确定。
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