Hu F, Hanifin J M, Prescott G H, Tongue A C
Am J Hum Genet. 1980 May;32(3):387-95.
This report describes three sisters, including monozygotic (MZ) twins, with clinical, ultrastructural, and histochemical features typical of yellow mutant albinism; This form of albinism is clinically similar to the tyrosinase-positive type, but hair bulbs showed (1) organelles similar to red hair pheomelanosomes and (2) absence of tyrosinase activity. Classical tyrosinase-negative albinism was found in a maternal cousin of the probands. Pedigree analysis of this family suggests multiple alleles occupying a single locus.
本报告描述了三姐妹，包括一对单卵双胞胎，她们具有典型的黄色突变型白化病的临床、超微结构和组织化学特征；这种白化病形式在临床上与酪氨酸酶阳性型相似，但毛球显示出（1）类似于红发中褐黑素小体的细胞器，以及（2）酪氨酸酶活性缺失。在先证者的一位母系表亲中发现了典型的酪氨酸酶阴性白化病。对这个家族的系谱分析表明，多个等位基因占据了一个单一基因座。
