Rubinstein P, Suciu-Foca N
Hum Hered. 1979;29(4):217-20. doi: 10.1159/000153047.
A three-generation family, ascertained through the presence of two diabetic sibs, provides segregation data suggestive of the existence of a null allele at the glyoxalase (GLO) locus. This conclusion is supported by the GLO 1 phenotype in two children from a GLO 2 father. These two children inherited the same paternal HLA allele, while two other sibs received GLO 2 with the other paternal HLA haplotype. The rest of the pedigree is in agreement with this suggestion, while the segregation of all other informative markers does not suggest nonpaternity.
一个通过两个患糖尿病的兄弟姐妹确诊的三代家庭,提供了分离数据,表明乙二醛酶(GLO)位点存在无效等位基因。来自GLO 2型父亲的两个孩子的GLO 1表型支持了这一结论。这两个孩子继承了相同的父本HLA等位基因,而另外两个兄弟姐妹则从父本的另一个HLA单倍型中获得了GLO 2。家系的其他部分也与这一推测相符,而所有其他信息性标记的分离并未表明存在非父系情况。