Fang B L
Institute of Basic Medical Sciences, Chinese Academic of Medical Sciences, Beijing.
Zhonghua Yi Xue Za Zhi. 1992 Dec;72(12):746-8, 774.
Haplotype analysis of the polymorphic loci, D13S26 and retinoblastoma (RB) gene which were closely linked to the gene responsible for Wilson disease (WD), was carried out to predict the presymptomatic stage or to detect carrier status in phenotypically normal sibs in 9 Chinese families with WD syndrome. By analysis of D13S26/HphI and RB/XbaI sites, 72% parents in these families were haplotypically heterozygote and therefore informative for linkage study. In 9 phenotypically normal sibs in these families, presymptomatic status was predicted with 99.2% confidence in 1 and excluded in 4. In the other 4 cases, 2 were unpredictable and 2 were at least heterozygote and had 50% chance of being WD homozygote, depending on which chromosome they have got from their fathers.
对与威尔逊病（WD）致病基因紧密连锁的多态性位点D13S26和视网膜母细胞瘤（RB）基因进行单倍型分析，以预测9个WD综合征中国家系中表型正常同胞的症状前阶段或检测其携带者状态。通过分析D13S26/HphI和RB/XbaI位点，这些家系中72%的父母为单倍型杂合子，因此可用于连锁研究。在这些家系的9名表型正常同胞中，1名被预测有99.2%的可能性处于症状前状态，4名被排除。在其他4例中，2例无法预测，2例至少为杂合子，根据从父亲那里获得的染色体不同，有50%的可能性为WD纯合子。
