Mari A, Amati F, Mingarelli R, Giannotti A, Sebastio G, Colloridi V, Novelli G, Dallapiccola B
Cattedra di Genetica Umana, Università Tor Vergata, Roma, Italy.
Hum Genet. 1995 Oct;96(4):444-8. doi: 10.1007/BF00191804.
Williams syndrome (WS) is caused by deletion of the elastin (ELN) gene. We have analyzed an intragenic restriction fragment length polymorphism (RFLP) and the gene dosage of ELN using a new probe (FP4) in a series of 60 sporadic patients with a clinical diagnosis of WS. Deletion of the ELN gene was shown in 54 cases, while clinical revaluation of the 6 patients without the deletion did not confirm the diagnosis of WS. These results support the genetic homogeneity of WS, and the high accuracy of ELN molecular analysis, which can be confidenty used for providing genetic counselling to WS families.
威廉姆斯综合征（WS）由弹力蛋白（ELN）基因缺失引起。我们使用一种新探针（FP4）分析了一系列60例临床诊断为WS的散发患者的基因内限制性片段长度多态性（RFLP）和ELN基因剂量。54例患者显示ELN基因缺失，而对6例无缺失患者的临床重新评估未证实WS诊断。这些结果支持WS的基因同质性以及ELN分子分析的高准确性，其可用于为WS家庭提供遗传咨询。
