Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
复制标题
DOI：
10.1590/s1807-59322011000600007
复制
发表时间：
2011-01-01
期刊：
影响因子：
2.7
通讯作者：
Kim, Chong Ae
中科院分区：
文献类型：
--
作者：
Dutra, Roberta Lelis;Pieri, Patrícia de Campos;Kim, Chong Ae
Williams-Beuren综合征（WBS; OMIM 194050）是由7q11.23的半合子连续基因微缺失引起的。主动脉瓣上狭窄、精神发育迟滞、过度友好、眼部和肾脏异常是WBS的典型症状。虽然荧光原位杂交被广泛用于诊断确认，微卫星DNA标记被认为是高度信息化和易于管理。结论：本研究旨在测试微卫星标记用于Williams-Beuren综合征的诊断，确定微缺失的大小和父母来源，比较不同大小的缺失和父母来源的患者的临床特征。应用D 7S 1870、D 7S 489、D 7S 613、D 7S 2476和D7S489_A 5个微卫星标记对97例临床诊断为Williams-Beuren综合征的患者进行研究。D 7S 1870（78.4%）的信息量最大，其次是D 7S 613（75.3%）、D 7S 489（70.1%）和D 7S 2476（62.9%）。84例（86.6%）患者存在微缺失，13例（13.4%）患者缺失。在52.4%的患者中发现母亲缺失，47.6%的患者中发现父亲缺失。在76/84例患者（90.5%）中观察到的缺失大小为1.55 Mb，在8/84例患者（9.5%）中为1.84 Mb。SVAS以及眼部和泌尿系统异常在缺失的患者中更常见。有没有临床差异，无论是大小或父母的起源deletation.CONCLUSION：使用这五个选定的微卫星标记是在所有患者的信息，因此可以被认为是一种替代方法的分子诊断Williams-Beuren综合征。
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered highly informative and easily manageable.OBJECTIVES: This study aimed to test the microsatellite markers for the diagnosis of Williams-Beuren syndrome, to determine the size and parental origin of microdeletion, compare the clinical characteristics between patients with different sizes of the deletion and parental origin.METHODS: We studied 97 patients with clinical diagnosis of Williams-Beuren syndrome using five microsatellite markers: D7S1870, D7S489, D7S613, D7S2476 and D7S489_A.RESULTS AND DISCUSSION: Using five markers together, the result was informative in all patients. The most informative marker was D7S1870 (78.4%), followed by D7S613 (75.3%), D7S489 (70.1%) and D7S2476 (62.9%). The microdeletion was present in 84 (86.6%) patients and absent in 13 (13.4%) patients. Maternal deletions were found in 52.4% of patients and paternal deletions in 47.6% of patients. The observed size of deletions was 1.55 Mb in 76/84 patients (90.5%) and 1.84 Mb in 8/84 patients (9.5%). SVAS as well as ocular and urinary abnormalities were more frequent in the patients with a deletion. There were no clinical differences in relation to either the size or parental origin of the deletion.CONCLUSION: Using these five selected microsatellite markers was informative in all patients, thus can be considered an alternative method for molecular diagnosis in Williams-Beuren syndrome.