宁夏回汉族人群中染色体17q22、10q25.3和ABCA4基因多态性与非综合征型唇腭裂的关联

山东大学学报(医学版) ›› 2013, Vol. 51 ›› Issue (1): 103-108.

宁夏回汉族人群中染色体17q22、10q25.3和ABCA4基因多态性与非综合征型唇腭裂的关联

周忠伟1，杨雄1，万应彪2，信燕华1，翟堃1，马坚2，黄永清2，姜敏3，王怡瑞4

1.宁夏医科大学口腔医学院，银川 750004； 2.宁夏医科大学总医院口腔科，银川 750004；
3.生物芯片北京国家工程研究中心宁夏分中心, 银川 750004； 4.清华大学医学院，北京100084

收稿日期:2012-08-02 出版日期:2013-01-10 发布日期:2013-01-10
通讯作者: 黄永清(1965- ),男,博士,教授,主任医师, 主要从事口腔颌面先天性畸形研究。 E-mail: yongqinghuang_6510@126.com
作者简介:周忠伟(1987- ),男,硕士,主要从事口腔颌面外科临床诊治工作。 E-mail: zzwjoel@hotmail.com
基金资助:
国家自然科学基金(81160131)

Associations of chromosomes 17q22, 10q25.3 and ABCA4 gene polymorphisms with nonsyndromic cleft lip/palate in Ningxia Hui and Han population

ZHOU Zhong-wei1, YANG Xiong1, WAN Ying-biao2, XIN Yan-hua1, ZHAI Kun1, MA Jian2, HUANG Yong-qing2, JIANG Min3, WANG Yi-rui4

1. College of Stomatology， Ningxia Medical University, Yinchuan 750004, China；
2. Department of Stomatology， General Hospital of Ningxia Medical University, Yinchuan 750004, China；
3. Subcenter in Ningxia, Beijing National Biochip Research Center, Yinchuan 750004, China；
4. School of Medicine，Tsinghua University, Beijing 100084, China

Received:2012-08-02 Online:2013-01-10 Published:2013-01-10

摘要/Abstract

摘要：

目的研究中国宁夏地区回汉族人群染色体17q22(rs227731)、ABCA4(rs560426)和10q25.3(7078160)位点单核苷酸多态性与非综合征型唇腭裂的相关性。方法研究对象包括非综合征型唇腭裂患儿415例,其中汉族191例，回族224例；患儿父亲205例,母亲240例；其中完整3人核心家系158个。将他们分为单纯唇裂组、单纯腭裂组、唇腭裂组，单纯唇裂组与唇腭裂组合并为唇裂伴或不伴腭裂组；对照组为健康大学生385例，其中汉族281例，回族104例。采用TaqMan基因型鉴定技术检测3个单核苷酸多态位点的基因型，进行病例对照分析、传递不平衡检验、以家系为基础的相关性分析。结果 ①染色体17q22区段的rs227731位点在汉族单纯唇裂组等位基因频率与对照组比较存在统计学差异(P<0.05)，在唇裂伴或不伴腭裂组中等位基因频率与对照组比较存在统计学差异(P<0.05)。回汉族唇腭裂组等位基因频率和唇裂伴或不伴腭裂组基因型、等位基因频率比较均存在统计学差异(P=0.04，P=0.04，P=0.01)；②ABCA4基因的rs560426位点在汉族单纯唇裂组基因型与等位基因频率与对照组比较存在统计学差异(P<0.05)，在唇裂伴或不伴腭裂组中基因型与等位基因频率与对照组比较存在统计学差异(P<0.05)，回汉族单纯唇裂组基因型、等位基因比较存在统计学差异(P=0.04，P=0.01)；③染色体10q25.3区段的rs7078160位点基因型与等位基因频率与对照组比较及回汉族相互比较均无统计学差异(P<0.05)。结论在宁夏汉族人群中染色体17q22区段的rs227731位点和ABCA4基因的rs560426位点单核苷酸多态性与非综合征型唇腭裂有统计学关联，染色体10q25.3区段的rs7078160位点与非综合征型唇腭裂无统计学关联。

关键词: 非综合征型唇腭裂; 17q22; ABCA4; 10q25.3; 单核苷酸多态性

Abstract:

Objective To explore if genetic variation in chromosome 17q22(rs22731)，ABCA4 (rs560426) and 10q25.3(rs7078160)genes contributes to non-syndromic cleft lip with or without cleft palate (NSCL/P) in Ningxia Hui and Han population. Methods The study consisted of 415 NSCL/P patients(Han=191，Hui =224)and their parents (303 fathers and 311 mothers, including 158 complete families). They were divided into 3 groups: the cleft lip only(CLO), the cleft palate only(CPO) and both the cleft lip and palate(CLP) groups, and we merged the CLO and CLP groups into the cleft lip with or without palate (CL/P) group. In addition, 385 healthy college students (Han=261，Hui =104)consisted of the control group. The single nucleotide polymorphisms(SNPs) were genotyped by TaqMan SNPs genotyping and the data were analyzed by case-control analysis, transmission disequilibrium test and family based association test. Results ① The distribution of alleles at rs227731 on chromosome 17q22 was significantly different between CLO and control groups in the Hans (P<0.05), and significant difference was found between CL/P and control groups in the Hans (P<0.05). There were significant differences in the genotypic and allelic frequencies of CLP and CL/P groups between the two ethnics. ② The distributions of both genotypes and alleles at rs560426 in ABCA4 gene were also significantly different between CLP and control groups in the Hans (P<0.05), and significant difference was found between CL/P and control groups in the Hans (P<0.05). There were significant differences in the genotypic and allelic frequencies of CLO groups between the two ethnics. ③ No differences were found in genotypic and allelic frequencies of rs7078160 on chromosome 10q25 between the patients and their parents and the controls, and between the two ethnics. Conclusion rs227731 and rs560426 SNPs are associated with NSCL/P in Ningxia Han population, and rs7078160 SNPs are not associated with NSCL/P in Ningxia population.

Key words: Non-syndromic cleft lip with or without cleft palate; 17q22; ABCA4; 10q25.3; Single nucleotide polymorphisms

中图分类号:

R782.2

周忠伟1，杨雄1，万应彪2，信燕华1，翟堃1，马坚2，黄永清2，姜敏3，王怡瑞4. 宁夏回汉族人群中染色体17q22、10q25.3和ABCA4基因多态性与非综合征型唇腭裂的关联[J]. 山东大学学报(医学版), 2013, 51(1): 103-108.

ZHOU Zhong-wei1, YANG Xiong1, WAN Ying-biao2, XIN Yan-hua1, ZHAI Kun1, MA Jian2, HUANG Yong-qing2, JIANG Min3, WANG Yi-rui4. Associations of chromosomes 17q22, 10q25.3 and ABCA4 gene polymorphisms with nonsyndromic cleft lip/palate in Ningxia Hui and Han population[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2013, 51(1): 103-108.

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