SEX-RATIOS OF AFFECTED AND TRANSMITTING MEMBERS OF MULTIPLE CASE FAMILIES WITH NEURAL-TUBE DEFECTS
SEX-RATIOS OF AFFECTED AND TRANSMITTING MEMBERS OF MULTIPLE CASE FAMILIES WITH NEURAL-TUBE DEFECTS
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DOI：
10.1136/jmg.29.10.695
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发表时间：
1992-10-01
影响因子：
4
通讯作者：
HAMEL, BCJ
中科院分区：
文献类型：
--
作者：
MARIMAN, ECM;HAMEL, BCJ
为了研究神经管缺陷与性别之间关系的遗传方面，我们选择了至少有两个密切相关的受影响成员的家庭。在这些多病例家庭中确定了受影响者和正常传播者的性别比例。我们的结果表明，脊柱病变的位置与性别之间存在相关性。此外，对只有两名受影响成员的家庭进行分析表明，一个家庭中受影响的人在性别上表现出显着的一致性。令我们惊讶的是，正常发射器组中的女性似乎明显多于男性。这与非综合征性唇裂+/-腭裂的类似家庭形成鲜明对比，在这些家庭中，男性在受影响者和正常传播者中均占主导地位。最后，受影响的女性最常从母亲那里继承神经管缺陷的倾向。讨论了遗传因素的可能作用。
In order to study the genetic aspects of the relation between neural tube defects and sex, we selected families with at least two closely related affected members. The sex ratios of both affected and normal transmitting persons were determined in these multiple case families. Our results indicate that there is a relation between the position of the lesion in the spine and sex. Furthermore, the affected persons in one family show significant concordance for sex as shown by the analysis of families with just two affected members. To our surprise, the group of normal transmitters appears to consist of significantly more females than males. This is in contrast to similar families with non-syndromic cleft lip +/- palate, where males predominate both among affected persons and normal transmitters. Finally, affected females most often inherited the predisposition to a neural tube defect from their mother. The possible role of inherited factors is discussed.