SKI基因多态性与中国华东地区部分人群非综合征性唇腭裂的相关研究

Relationship between nonsyndromic cleft lip with or without cleft palate and genetic polymorphisms of SKI

目的:探讨SKI基因257C>G多态与中国华东地区部分人群非综合征性唇腭裂(NSCL/P)发生的关系。方法:采用病例对照设计,应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP),进行SKI基因257C>G多态性检测,并进行遗传统计分析。结果:对于SKI基因257C>G,8个杂合子父母及患儿的核心家庭TDT检验(χ2=3.56,P>0.05);50例NSCL/P患儿和50例正常儿童基因型及等位基因频数病例对照研究(χ2=2.08,P>0.05)。结论:SKI基因257C>G位点多态与中国华东地区部分人群NSCL/P的发生无相关性,可能不是NSCL/P的主要易感基因。

Objective To explore the relationship between nonsyndromic cleft lip with or without cleft palate （NSCL/P） and genetic polymorphism of SKI in Chinese population. Methods Case-control study design was employed. SKI genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques （ PCR-RFLP）. Results As to SKI 257C〉G, 8 heterozygous parents with an affected child were analyzed through case-parental control study using TDT （x^2= 3.56, P〉0.05）. The genotype frequency and allele frequency of 50 NSCL/P cases and 50 controls were analyzed through case-control study （x^2= 2.08, P〉0. 05）. Conclusion The genetic polymorphism of SKI 257C〉G is not associated with the development of NSCL/P, and the genetic polymorphism of SKI is not a risk factor for NSCL/P in the Chinese population.