全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

相关文章

更多...
-  2017 

ENPP1基因rs6925433位点基因多态性在喀什地区维吾尔族人群中的分布调查
Study on ENPP1 Gene SNP Rs6925433 Polymorphism among Uyghur Nationality in Kashgar.

DOI: 10.13701/j.cnki.kqyxyj.2017.06.014

Keywords: ENPP1基因,单核苷酸多态性,维吾尔族,
Ectonucleotide phosphodiesterase (ENPP1)
, Single nucleonic polymorphisms ,Uyghur nationality

Full-Text   Cite this paper   Add to My Lib

Abstract:

摘要 目的:研究新疆喀什地区维吾尔族人群中焦磷酸合成酶1(ENPP1)基因rs6925433多态性位点的分布特征。方法:采用横断面研究方法,以喀什地区疏附县213例维吾尔族个体为对象,采用棉拭子法取双侧颊黏膜脱落上皮细胞,提取基因组DNA,利用PCR和双脱氧末端终止法基因测序,结合DNAstar和Chromas 2等软件进行基因分型,统计分析受试人群基因型频率和等位基因频率,并与已报道的其他地区民族基因数据进行比较分析。结果:喀什地区维吾尔族人群中ENPP1基因rs6925433位点GG,AG和AA的基因型频率分布分别为28.17%,50.23%和21.60% ,A/G等位基因频率分布A=46.71%,G=53.29%;与北京汉族人群相比,维吾尔族人群rs6925433位点GG型分布高,AA型分布低(P=0.046);与欧洲人群相比,维吾尔族人群该SNP位点GG型分布低,AA型分布高(P=0.010),差异均具有统计学意义;在上述3个人群中,A/G等位基因频率分布未见明显差别。结论:新疆喀什地区维吾尔族人群与其他民族人群rs6925433位点基因多态性分布特征明显不同

References

[1]  Foster BL,Tompkins KA,Rutherford RB,et al. Phosphate:known and potential roles during development and regeneration of teeth and supporting structure [J]. Birth Defects Res C Embryo Today,2008,84(4)∶281-314
[2]  段晓东,王存睿,刘慧,等.基于人脸识别的面部民族特征研究[J].大连民族学院学报,2009,11(5):454-458.DOI:10.3969/j.issn.1009-315X.2009.05.018
[3]  宁婉辰,乔聪聪,王丽.黑龙江地区PECAM-1多态性与慢性牙周炎的相关研究[J].口腔医学研究,2015,31(2)∶167-170+174
[4]  Dong H, Maddux BA, AltomonteJ, et al.lncreased hepatic levels of the insulin receptor inhibitor, PC-l /ENPPl, induce insulin resistance and glucose intolerance [J]. Diabetes,2005,54∶367-372
[5]  Jing Guo, Jingze Tan, Yajun Yang, et al. Variation and signatures of selection on the human face [J]. J Hum Evol, 2014, 75∶143-152
[6]  孟康,于鑫玮,高承志,等.新疆汉族与维吾尔族成人侧貌特征分析与比较[J].上海口腔医 学,2014,23(4)∶489-493
[7]  郝建文,万立华,李隆广,等.中国北方5个少数民族人群面部五官特征统计分析[J].重庆医科大学学报,2010,35(2)∶297-303
[8]  Orriss IR, Key ML, Hajjawi MO, et al. Acidosis is a key regulator of osteoblast ecto-nucleotidase pyrophosphatase/phosphodiesterase 1 (NPP1) expression and activity [J]. J Cell Physiol, 2015, 230(12)∶3049-56
[9]  Saito T,Shimizu Y,Hori M,et a. A patient with hypophosphatemic rickets an dossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene [J]. Bone, 2011, 49(4)∶913-916
[10]  Hsiao TJ, Lin E. The ENPP1 K121Q polymorphism is associated with type 2 diabetes and related metabolic phenotypes in a Taiwanese population [J]. Mol Cell Endocrinol, 2016, 15;433∶20-25
[11]  Mosig RA, Dowling O, DiFeo A, et al. Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth [J]. Hum Mol Genet, 2007, 16(9)∶1113-1123
[12]  Hamade T,Bianchi A,Sebillaud S,et al. Inorganic phosphate(Pi) modulates the expression of key regulatory proteins of the inorganic pyrophosphate(PPi) metabolism in metabolism TGF-β1-stimulated chondrocytes [J]. Biomed Mater Eng,2010,20(3)∶209-215
[13]  Ermakov Sergey, Rosenbaum Michael G, Malkin Ida, et al. Family-based study of association between ENPP1 genetic variants and craniofacial morphology [J]. Ann Hum Biol,2010,6(37)∶754-766
[14]  Shouneng Peng,Jingze Tan,Sile Hu,et al. Detecting Genetic Association of Common Human Facial Morphologicl Variation Using High Density 3D Image Registration [J]. PLoS Comput Biol,2013,9(12)∶913-920
[15]  FU S, HE H, HOU ZG. Learning Race from Face: ASurvey [J]. IEEE T Pattern Anal, 2014, 36(12)∶2483 -2509
[16]  Peng Q, Li J, Tan J, et al. EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects [J]. Hum Genet, 2016, 135(1)∶99-108
[17]  Boonyarit H, Mahasirimongkol S, Chavalvechakul N, et al. Development of a SNP set for human identification:A set with high powers of discrimination which yields high genetic information from naturally degraded DNA samples in the Thai population [J]. Forensic Sci Int Genet, 2014, 11(1)∶166-73
[18]  昆得孜杜肯,古丽,阿依帕丽巴吾东,阿地力莫明.MTHFR基因单核苷酸多态性与新疆地区维吾尔族非综合征性唇腭裂的相关性研究[J].口腔医学研究,2015,31(11)∶1085-1088
[19]  齐晓明,尤崇革,卢明华,等.高分辨率熔解技术检测冠心病关联基因标签单核苷酸多态性[J].临床检验杂志,2015,33(1)∶1-5

Full-Text

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133