荧光原位杂交检测Williams综合征及主动脉瓣上狭窄患儿的弹性蛋白基因缺失

Elastin gene deletions detected by FISH in children with Williams syndrome and supravalvular aortic stenosis

目的 试图了解主动脉瓣上狭窄（ＳＶＡＳ） 和Ｗｉｌｌｉａｍｓ 综合征（ ＷＳ） 患儿弹性蛋白基因（ＥＬＮ） 缺失的不同程度，从分子水平为鉴别诊断提供有力的实验室依据。方法 采用含ＥＬＮ 位点的地高辛标记的单一序列探针ＷＳＣＲ 探针，对８ 例以ＳＶＡＳ收治入院的患儿染色体标本进行荧光原位杂交（ＦＩＳＨ） ，同时根据Ｌｏｗｅｒｙ 的ＷＳ表现型评分表进行症状评估。结果 ８ 例患儿中５ 例为ＷＳ，１ 例为单纯性ＳＶＡＳ，另２ 例尚属可疑。结论 ＷＳ中ＥＬＮ 位点的缺失为半合子状态，ＦＩＳＨ 是一种协助临床鉴别中国人ＷＳ和ＳＶＡＳ的有效方法。

Objective To investigate the different degrees of elastin gene deletions in Chinese children with Williams syndrome (WS)and supravalvular aortic stenosis (SVAS), and provide an effective molecular laboratory test for the differentiation diagnosis Methods Eight children with SVAS diagnosed by echocardiography and catheterization were examined by fluorescent in situ hybridization (FISH)with WSCR probe which included elastin gene locus The clinical features of the patients were assessed according to Lowery′s phenotype scoring system of WS Results Out of the 8 patients, 5 were diagnosed as WS, one as simple SVAS by FISH Two patients remained undecided Conclusion Hemizygosity of the elastin gene deletions was identified in patients with WS FISH might be an useful genetic test for diagnosis of Chinese children with WS and SVAS