中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
Mutations of the transcription factor foxl2 gene in chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

文献类型:期刊论文

作者Li, Dongmei1; Zeng, Wotan2,3; Tao, Jing1; Li, Shentao; Liang, Chen2; Chen, Xiaojun2; Mu, Weihua2; Wang, Xiaohong2; Qin, Yi1; Jie, Ying1
刊名Genetic testing and molecular biomarkers
出版日期2009-04-01
卷号13期号:2页码:257-268
ISSN号1945-0265
DOI10.1089/gtmb.2008.0121
通讯作者Wei, wenbin(ldmlily@x263.net)
英文摘要Blepharophimosis-ptosis-epicanthus inversus syndrome (bpes) is an autosomal dominant syndrome of eyelid malformations with (type i) or without (type ii) associated premature ovarian failure. multiple mutations in the exon and the putative core promoter region of foxl2 gene encoding a putative forkhead transcription factor have been linked to this disease. to examine whether foxl2 gene mutations contribute to bpes in the chinese patient population, we screened 33 patients from 18 chinese families with bpes of unknown types, together with 57 healthy individuals, including 27 relatives of the affected families. genomic dna was extracted from the participants' peripheral blood leukocytes, and amplified by polymerase chain reaction for various regions of the foxl2 gene, followed by sequencing analysis. ten mutations in the foxl2 gene were detected: four were previously reported (g. 1041_1042insc, g. 1366_1367inst, g. 909_938dup30, and g. 900_929dup30), and six were novel ones (g. 406t> a, g.-14g> a, g. 1108_1109insc, g. 2577c>t, g. 1987c>a, and g. 1002c>g). among them, mutations in the coding region for the polyalanine tract, as well as novel mutations in the core promoter, the 3'-utr, and in the forkhead domain were identified. our results expanded the spectrum of foxl2 mutations in bpes and provided additional valuable genetic information for this rare disease.
WOS关键词GENOTYPE-PHENOTYPE CORRELATION ; PROTEIN AGGREGATION ; BPES ; EXPRESSION ; EVOLUTION ; FAMILIES ; LEAD
WOS研究方向Biochemistry & Molecular Biology ; Genetics & Heredity
WOS类目Biochemistry & Molecular Biology ; Genetics & Heredity
语种英语
WOS记录号WOS:000265266000020
出版者MARY ANN LIEBERT INC
URI标识http://www.irgrid.ac.cn/handle/1471x/2401247
专题中国科学院大学
通讯作者Wei, Wenbin
作者单位1.Capital Med Univ, Beijing TongRen Hosp, Beijing TongRen Eye Ctr, Ophthalmol & Visual Sci Key Lab, Beijing 100730, Peoples R China
2.Chinese Natl Human Genome Ctr, Beijing, Peoples R China
3.Chinese Acad Sci, Grad Sch, Beijing, Peoples R China
推荐引用方式
GB/T 7714
Li, Dongmei,Zeng, Wotan,Tao, Jing,et al. Mutations of the transcription factor foxl2 gene in chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome[J]. Genetic testing and molecular biomarkers,2009,13(2):257-268.
APA Li, Dongmei.,Zeng, Wotan.,Tao, Jing.,Li, Shentao.,Liang, Chen.,...&Wei, Wenbin.(2009).Mutations of the transcription factor foxl2 gene in chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Genetic testing and molecular biomarkers,13(2),257-268.
MLA Li, Dongmei,et al."Mutations of the transcription factor foxl2 gene in chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome".Genetic testing and molecular biomarkers 13.2(2009):257-268.

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来源:中国科学院大学

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