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遗传性多发性骨软骨瘤致病基因EXT1和EXT2的多态性研究

Zhongshan Daxue xuebao. Yixue kexue ban, 2011
【目的】研究EXT1与EXT2基因在我国南方正常人及致病性突变已明确的遗传性多发性骨软骨瘤病人中的多态性。【方法】 选取50例中国南方健康汉族个体及13例致病突变已明确的遗传性多发性骨软骨瘤病人，提取基因组DNA，对包含5’UTR区、编码区、外显子-内含子交界区及3’UTR区的PCR产物进行直接测序。 鉴定基因内的遗传变异，并将结果和国际数据库中的数据进行对比。【结果】 在所有研究对象中共发现15个不同的EXT1基因的单核苷酸多态性(SNPs)：3个在编码区，为同义突变，11个在内含子区，1个在3 ...
doaj  

[Recent research on gene polymorphisms and genetic susceptibility of neonatal sepsis]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Gao J, Shu JB, Liu Y.
europepmc   +1 more source

[Effect of <i>CYP3A5</i> Genetic Polymorphisms on the Blood Drug Concentration of Tacrolimus in Patients With Lupus Nephritis and the Relationship With Patient Prognosis]. [PDF]

Sichuan Da Xue Xue Bao Yi Xue Ban
Wei L, Wang T, Hu Y, Xie Q.
europepmc   +1 more source

Chronic inflammation, the tumor microenvironment and carcinogenesis [PDF]

, 2009
Shuiping Tu, Tamas A. Gonda, Timothy C. Wang   +2 more
core  

[Interaction between COMT gene polymorphisms and childhood trauma in adolescents with non-suicidal self-injury]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Zhao M, Feng J, Wang LY, Zhou B.
europepmc   +1 more source

[Effect of interleukin<i>-</i>17 gene polymorphism on susceptibility to cow's milk protein allergy in infants and its association with gut microbiota]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Hao WY, Zhu C, Lu S, Wang H.
europepmc   +1 more source

[Association of CDH1, FANCB and APC Gene Polymorphisms 
with Lung Cancer Susceptibility in Chinese Population]. [PDF]

Zhongguo Fei Ai Za Zhi, 2022
Su L, Huang H, Gao M, Li Y, Shi R, Chen C, Li X, Zhu G, Liu H, Chen J.   +9 more
europepmc   +1 more source

Correlation between polymorphisms of SIRT2 gene and renal injury in patients with type 2 diabetes mellitus. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Wu S, Yi B, Dai Y, Liao X, Peng J, Li A.
europepmc   +1 more source

Association of adipocytokine pathway gene polymorphisms with NAFLD in obese children. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Wang J, Pan X, Wei J, Li X, Zhou H, Xu N, Kang R, Zhong Y, Luo J.   +8 more
europepmc   +1 more source

[Effects of <i>MTHFR</i> and <i>GGH</i> gene polymorphisms on plasma concentrations and toxicity following high-dose methotrexate therapy in children with acute lymphoblastic leukemia]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Teng LX, An Q, Wang L, Wang N, Kong QL, Han R, Wang Y, Liu L, Wang Y, Xu SM, Shi KP, Qiu FS, DU XX, Shi JR.   +13 more
europepmc   +1 more source