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Genome-wide and Interaction Linkage Scan for Nonsyndromic Cleft Lip with or without Cleft Palate in Two Multiplex Families in Shenyang, China
Wang, Yun1; Li, Xin2; Zhu, Wen-Li1; Guo, Jin-Zhen1; Song, Xiao-Ming1; Li, Shu-Qin3; Li, Yong1
关键词Nonsyndromic cleft lip with or without cleft palate Parametric linkage Nonparametric linkage Interaction
刊名BIOMEDICAL AND ENVIRONMENTAL SCIENCES
2010-10-01
23期:5页:363-370
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Environmental Sciences ; Public, Environmental & Occupational Health
资助者National Natural Science Foundation of China ; Ministry of Education of China ; National Natural Science Foundation of China ; Ministry of Education of China
研究领域[WOS]Environmental Sciences & Ecology ; Public, Environmental & Occupational Health
关键词[WOS]INTERFERON-REGULATORY-FACTOR-6 IRF6 ; TOOTH AGENESIS ; ORAL CLEFTS ; LOCI ; GENE ; MUTATION ; IDENTIFICATION ; LIP/PALATE ; METAANALYSIS ; ASSOCIATION
英文摘要

Objectives To identify the loci involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Northern Chinese people in Shenyang by using genomewide and interaction linkage scan. Methods Two multiplex families in Shenyang from North China were ascertained through probands with NSCL/P. Blood of every member was drawn for DNA extraction and analysis. Genotypes were available for 382 autosomal short tandem repeat (STR) markers from the ABI Prism Linkage Mapping Set version 2.5. Linkage between markers and NSCL/P was assessed by 2-point parametric LOD scores, multipoint-heterogeneity parametric LOD scores (HLODs), and multipoint nonparametric linkage score (NPL). Results The initial scan suggested linkage on Chromosomes 1, 2, and 15. In subsequent fine mapping, 1q32-q42 showed a maximum multipoint LOD score of 1.9(empirical P=0.013) and an NPL score of 2.35 (empirical P=0.053). For 2p24-p25, the multipoint NPL increased to 2.94 (empirical P=0.007). 2-locus interaction analysis obtained a maximum NPL score of 3.73 (P=0.00078) and a maximum LOD score of 3 for Chromosome 1 (at 221 cM) and Chromosome 2 (at 29 cM). Conclusion Both parametric and nonparametric linkage scores greatly increased over the initial linkage scores on 1q32-q42, suggesting a susceptibility locus in this region. Nonparametric linkage gave a strong evidence for a candidate region on chromosome 2p24-p25. The superiority of 2-locus linkage scores compared to single-locus scores gave additional evidence for linkage on 1q32-q42 and 2p24-p25, and suggested that certain genes in the two regions may contribute to NCSL/P risks with interaction.

语种英语
所属项目编号30600676 ; NCET-07-0034
资助者National Natural Science Foundation of China ; Ministry of Education of China ; National Natural Science Foundation of China ; Ministry of Education of China
WOS记录号WOS:000284393500005
Citation statistics
Cited Times:2[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/67386
Collection北京大学公共卫生学院
作者单位1.China Med Univ, Sheng Jing Hosp, Shenyang, Peoples R China
2.Peking Univ, Hlth Sci Ctr, Sch Publ Hlth, Dept Nutr & Food Hyg, Beijing 100191, Peoples R China
3.Chinese Acad Sci, Beijing Inst Genom, Beijing 100864, Peoples R China
Recommended Citation
GB/T 7714
Wang, Yun,Li, Xin,Zhu, Wen-Li,et al. Genome-wide and Interaction Linkage Scan for Nonsyndromic Cleft Lip with or without Cleft Palate in Two Multiplex Families in Shenyang, China[J]. BIOMEDICAL AND ENVIRONMENTAL SCIENCES,2010,23(5):363-370.
APA Wang, Yun.,Li, Xin.,Zhu, Wen-Li.,Guo, Jin-Zhen.,Song, Xiao-Ming.,...&Li, Yong.(2010).Genome-wide and Interaction Linkage Scan for Nonsyndromic Cleft Lip with or without Cleft Palate in Two Multiplex Families in Shenyang, China.BIOMEDICAL AND ENVIRONMENTAL SCIENCES,23(5),363-370.
MLA Wang, Yun,et al."Genome-wide and Interaction Linkage Scan for Nonsyndromic Cleft Lip with or without Cleft Palate in Two Multiplex Families in Shenyang, China".BIOMEDICAL AND ENVIRONMENTAL SCIENCES 23.5(2010):363-370.
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