A genetic and epidemiologic study of polydactyly in human embryos in Japan
A genetic and epidemiologic study of polydactyly in human embryos in Japan
复制标题
日本人类胚胎多指症的遗传学和流行病学研究
DOI：
--
复制
发表时间：
1978
期刊：
影响因子：
--
通讯作者：
E. Matsunaga
中科院分区：
文献类型：
--
作者：
K. Shiota;E. Matsunaga
在1962年至1974年间通过人工流产获得的36,380个人类胚胎中，发现了129个多指胚胎，总的发生率为0.35%，这一比例必须被低估，因为分母包括大量的受损胚胎。1971年和1972年出现了显著的增长，一些外生因素，很可能是确定偏差，被怀疑是原因。与黑人和高加索人群中以轴前型为主的病例相比，约四分之三的病例有轴前型多指畸形。母体平均年龄与一般胚胎人群的平均年龄无显著差异，提示与母体年龄密切相关的13、18、21三体等染色体异常可能不是日本人多指畸形的主要原因。母亲的妊娠顺序对该畸形的原因没有影响。该病例的母亲比对照组有更频繁的流产，这表明可能是某种母亲的易感性造成的影响。没有与父亲的年龄、父母的血缘关系或母亲的病史，包括月经周期不规律，以及吸烟和饮酒习惯的联系被证实。所有病例均未发现家族史。有人认为，显性遗传不是主要原因，复杂的遗传机制或未知的外源性因素可能是日本多指症的大多数病例的原因。
SummaryOne hundred and twenty-nine embryos with polydactyly were found among 36,380 human conceptuses obtained through induced abortion during the period from 1962 to 1974, giving an overall incidence of 0.35%; this must be taken as an underestimate because the denominator includes a large number of damaged embryos. A significant increase was noted in 1971 and 1972, and some exogenous factors, most probably ascertainment bias, were suspected to be responsible. About three quarters of the present cases had preaxial polydactyly in contrast to the predominance of postaxial type in Negro and Caucasian populations. The ratio unilateral to bilateral affection was approximately 2:1.The mean maternal age did not differ significantly from that of the general embryonic population, indicating that chromosomal aberrations such as trisomies 13, 18 and 21 that are closely associated with maternal age may not constitute a major component as causes of Japanese polydactyly. Maternal pregnancy order had no effect upon the causation of this malformation. The case mothers were shown to have more frequent miscarriages than controls, suggesting the possible effect of some kind of maternal predisposition. No association was verified with paternal age, parental consanguinity nor with maternal medical history, including irregular menstrual cycle, and smoking and drinking habit. None of the cases was found to be familial. Argument was made that dominant inheritance is not a major cause and that complex genetic mechanisms or unknown exogenous factors may be responsible for the majority of the Japanese cases of polydactyly.