[1]宋娜,杨先,朱玮,等.中国一先天性青光眼家系及散发病例LTBP2基因的突变筛查[J].青岛大学学报(医学版),2017,53(06):640-643,648.[doi:10.13361/j.qdyxy.201706003]
 SONG Na,YANG Xian,ZHU Wei,et al.SCREENING FOR LTBP2 MUTATIONS IN A CHINESE FAMILY WITH CONGENITAL GLAUCOMA AND SPORADIC CASES OF CONGENITAL GLAUCOMA[J].JOURNAL OF QINGDAO UNIVERSITY (MEDICAL SCIENCES),2017,53(06):640-643,648.[doi:10.13361/j.qdyxy.201706003]
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中国一先天性青光眼家系及散发病例LTBP2基因的突变筛查()
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《青岛大学学报(医学版)》[ISSN:2096-5532/CN:37-1217/R]

卷:
第53卷
期数:
2017年06期
页码:
640-643,648
栏目:
出版日期:
2018-03-21

文章信息/Info

Title:
SCREENING FOR LTBP2 MUTATIONS IN A CHINESE FAMILY WITH CONGENITAL GLAUCOMA AND SPORADIC CASES OF CONGENITAL GLAUCOMA
文章编号:
1672-4488(2017)06-0640-05
作者:
宋娜杨先朱玮陈文诗唐春顿月丽
青岛大学附属医院眼科,山东 青岛 266003
Author(s):
SONG Na YANG Xian ZHU Wei CHEN Wenshi TANG Chun DUN Yueli
Department of Ophthalmology, Affiliated Hospital of Qingdao University, Qingdao 266003, China
关键词:
青光眼潜在转化生长因子β结合蛋白2基因检测内含子
Keywords:
glaucoma the latent transforming growth factor-beta binding protein 2 genetic testing introns
分类号:
R775.2
DOI:
10.13361/j.qdyxy.201706003
文献标志码:
A
摘要:
目的 筛查中国一先天性青光眼(PCG)家系及散发病例潜在转化生长因子β结合蛋白2(LTBP2)基因的突变。
方法 收集我院2007年至今CYP1B1基因突变筛查阴性的1个PCG家系、9例散发病例及50位正常人,行LTBP2基因的14个外显子及邻近内含子突变筛查。
结果 发现家系患病父子及1个散发病例内含子序列点突变:g.74991741A>T(rs862032),位于Intron15-16,与疾病表型分离;在LTBP2基因编码区鉴定出5个单核苷酸多态性(SNP),其中2个错义突变:c.956C>A,p.P319Q和c.4286G>A,p.R1429Q(正常人未检出);3个同义突变:c.1287G>A,p.L429L、c.2406T>C,p.T802T和c.2502T>C,p.T834T。其中p.L429L只在PCG病人中检出,p.T802T和p.T834T在病人及正常人均存在。在其他病人中检查到另外3个内含子突变:g.75022538T>C(rs57176747),g.75019157A>G(rs11622992)和g.74967541A>C,其中g.74967541A>C无SNP编号,为首次报道,其位于编码区后第46位核苷酸,属于3′端UTR突变。rs11622992首次在原发性PCG病人中检出;病人和正常人都存在的内含子突变为:g.74992861T>G,g.74991959A>G。
结论 LTBP2基因点突变rs862032与该家系发病相关,其与g.74967541A>C、 rs57176747和 rs11622992都参与PCG发病。
Abstract:
Objective  To screen for the mutations of the latent transforming growth factor (TGF)-beta binding protein 2 (LTBP2) gene in a family with primary congenital glaucoma (PCG) and sporadic cases of PCG in China.
Methods  A family with PCG,9 sporadic cases of PCG, and 50 normal controls, who tested negative in CYP1B1 mutation detection in our hospital since 2007, were tested to detect the mutations of 14 exons and adjacent introns of the LTBP2 gene.
Results  We found an intron sequence point mutation in a pair of diseased father and son and one of the sporadic cases: g.74991741A>T (rs862032), located in Intron15-16, distinct from the disease phenotype. Five single nucleotide polymorphisms (SNPs) were identified in the coding region of the LTBP2 gene, i.e., two missense mutations: c.956C>A, p.P319Q and c.4286G>A, p.R1429Q (undetected in the normal controls); three synonymous mutations: c.1287G>A, p.L429L, c.2406T>C, p.T802T, and c.2502T>C, p.T834T, among which, p.L429L was detected only in PCG patients, while both p.T802T and p.T834T existed in both patients and normal controls. Three other intron mutations were detected in other patients: g.75022538T>C (rs57176747), g.75019157A>G (rs11622992), and g.74967541A>C; g.74967541A>C had no SNP number as it was first reported, and it was located at the 46th nucleotide after the coding region and belonged to the 3′UTR mutation. Rs11622992 was first detected in PCG patients. Two intron mutations were detected in both patients and controls: g.74992861T>G and g.74991959A>G.
Conclusion  The point mutation rs862032 of the LTBP2 gene is associated with the onset of PCG in this family, and g.74967541A>C, rs57176747, and rs11622992 are also involved in the pathogenesis of PCG.
更新日期/Last Update: 2018-03-24