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学科主题: 公共卫生
题名:
Genome-wide and Interaction Linkage Scan for Nonsyndromic Cleft Lip with or without Cleft Palate in Two Multiplex Families in Shenyang, China
作者: 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
发表日期: 2010-10-01
卷: 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
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
项目资助者: National Natural Science Foundation of China ; Ministry of Education of China
WOS记录号: WOS:000284393500005
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内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67386
Appears in Collections:北京大学公共卫生学院_期刊论文

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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:
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.
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