ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS *
ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS *
复制标题
关于莱伯先天性黑蒙的各种隐性生物型 *
作者：
P. J. Waardenburg;J. Schappert
在荷兰一次关于失明原因的调查中，我们遇到了一对令我们担心的已婚夫妇，因为他们的失明是由惊人相似的临床疾病引起的，而他们的两个孩子却有正常的眼睛和正常的视力。父母两人在盲人收容所相遇，他们的疾病具有遗传性。对于父亲来说，这是很有可能的，因为他是一级堂兄弟姐妹中唯一的孩子，而对于母亲来说，这是无可争议的，因为她有两个姐妹患有相同的疾病，但程度不同。尽管受影响的三姐妹的父母来自地理上并不遥远的村庄，但我们无法追溯到共同的祖先。然而，可以假设这对夫妇的四位父母都是隐性基因的携带者，这在两个家庭中并不相同，因为这对夫妇的孩子是正常的。这些孩子（一个 8 岁的女孩和一个 3 岁的男孩（1957 年））的婚外父母关系可以被排除（见图）。
During a n inquiry on the causes of blindness in the Netherlands we encountered a married couple which worried us, because their blindness was the result of clinical disorders which were strikingly similar, whereas their two children had normal eyes and normal visual acuity. The diseases of the two parents, who first met in an asylum for the blind, bear a hereditary character. This is very probable for the father, who was the only child of f irs t degree cousins, and it is beyond dispute in the mother's case because she had two sisters suffering from the same disease, but in different degrees. Though the parents of the three affected sisters originated from villages geographically not very distant, we were unable to trace the pedigree back to common ancestors. I t may, however, be assumed that each of the 4 parents of this couple was the carrier of a recessive gene, which was not identical in the two families, since the children of the couple were normal. Extramatrimonial parenthood of these children, a girl of 8 and a boy of 3 (in 1957), could be excluded (see figure).