用P^(68SR2.0)标记多态性对Wilson病的早期诊断及杂合子检测

CARRIER DETECTION AND EARLY DIAGNOSIS OF WILSON DISEASE AND THE USE OF POLYMORPHISM OF P^(68RS2.0)

本研究结合临床铜生化检测结果，应用分子生物学技术对６个Ｗｉｌｓｏｎ＇ｓｄｉｓｅａｓｅ（ＷＤ）家系进行检测，在１３名同胞中共检出２名ＷＤ症状前患者，６名杂合子及１名正常人，另４名无检测意义。其结果表明，来自视网膜母细胞瘤易感基因（Ｒｂ）的标记探针Ｐ６８ＲＳ２．０标记有助于ＷＤ的基因筛选，但不是唯一的诊断依据。

In this paper , we examined the utility of copper biochemical date and introduced the use of molecular genetics for screening siblings of affected patients for WD in 6 pedigrees. 2 presymptomatic patients were diagnosised and 6 carriers and 1 normal homozygote were ruled out in 13 siblings of these families. The data showed that a probe P68RS2.0 from the linked retinoblastoma (Rb) gene can be very helpful in identifying sibling of affected patients ,but it wasn't the only definitive diagnostic criterion.