Oka Y, Niikawa N, Yoshida A, Matsumoto H
Am J Hum Genet. 1982 Jan;34(1):134-41.
An unusual blood group inheritance, that is, a phenotype O child from AB X O parents, was found in a Japanese family. Since two other children from the parents are blood type B, this is not a case of Cis-AB inheritance. The mother is not blood A/B chimera, and normal levels of blood group N-acetylgalactosaminyltransferase (A-enzyme) and galactosyltransferase (B-enzyme) were detected in her plasma. Therefore, the mother is genetically true AB heterozygous. The two sons with phenotype B had normal levels of plasma B-enzyme, but had no A-enzyme, and the father and the daughter with phenotype O had neither A- nor B-enzyme in their plasma. The analyses of 24 genetic marker systems indicated that the O daughter was a true child of the parents. The affirmative probability of parentage on the O daughter was calculated to be .9999999917 by Bayes' theorem. We concluded that the genotype of the O daughter was not the usual 00, and that this rare O expression might be due to a new structural mutation or a deletion in either maternal A or B gene during oogenesis.
在一个日本家庭中发现了一种不寻常的血型遗传现象，即父母血型分别为AB型和O型，却生出了一个O型血的孩子。由于这对父母的另外两个孩子是B型血，所以这并非顺式AB遗传的情况。母亲不是AB血型嵌合体，且在其血浆中检测到正常水平的血型N - 乙酰半乳糖胺基转移酶（A酶）和半乳糖基转移酶（B酶）。因此，母亲在基因上是真正的AB杂合子。两个表现型为B型的儿子血浆中B酶水平正常，但没有A酶，而表现型为O型的父亲和女儿血浆中既没有A酶也没有B酶。对24个遗传标记系统的分析表明，这个O型血的女儿是这对父母的亲生孩子。根据贝叶斯定理，计算出这个O型血女儿的亲子关系肯定概率为0.9999999917。我们得出结论，这个O型血女儿的基因型并非常见的OO型，这种罕见的O型表现可能是由于卵子发生过程中母源A基因或B基因发生了新的结构突变或缺失。
