中國(guó)漢族人群PDE4D基因多態(tài)性與強(qiáng)迫癥的關(guān)聯(lián)研究
本文關(guān)鍵詞: 強(qiáng)迫障礙 磷酸二酯酶4D 單核苷酸 多態(tài)性 出處:《青島大學(xué)》2017年碩士論文 論文類型:學(xué)位論文
【摘要】:目的:探索中國(guó)漢族人群磷酸二酯酶4D(PDE4D)基因多態(tài)性與強(qiáng)迫癥可能存在的關(guān)系,尋找與強(qiáng)迫癥相關(guān)的生物遺傳標(biāo)志。方法:依據(jù)國(guó)際疾病與相關(guān)健康問(wèn)題統(tǒng)計(jì)分類第十版(ICD-10)關(guān)于強(qiáng)迫癥的診斷標(biāo)準(zhǔn),先用聚合酶鏈?zhǔn)椒磻?yīng)(PCR)擴(kuò)增目的基因的片段,然后應(yīng)用限制性內(nèi)切酶片段長(zhǎng)度多態(tài)性(RFLP)來(lái)分析測(cè)定序列的差異性,即采用PCR-RFLP技術(shù),測(cè)定符合納入標(biāo)準(zhǔn)的共計(jì)859例受試者的PDE4D基因rs1838733位點(diǎn)的基因型、等位基因的頻率分布,其中包含400例強(qiáng)迫癥患者,459例健康對(duì)照者;分析此位點(diǎn)與強(qiáng)迫癥的關(guān)聯(lián)性。依據(jù)發(fā)病特點(diǎn),按性別、發(fā)病年齡分層后,比較分層后各組間該位點(diǎn)的基因型頻率、等位基因頻率分布與強(qiáng)迫癥的關(guān)聯(lián)性。結(jié)果:經(jīng)H-W檢驗(yàn),磷酸二酯酶4D基因rs1838733位點(diǎn)符合Hardy-Weinderg平衡定律(p0.05),該位點(diǎn)共檢出3種基因型,分別為AA、AG、GG,通過(guò)對(duì)此位點(diǎn)基因型頻率、等位基因頻率分布比較,差異無(wú)顯著性(P0.05);依照性別、發(fā)病年齡分層后,該位點(diǎn)在分組后組與組之間上的基因型頻率、等位基因頻率分布差異亦均無(wú)顯著性(P0.05)。結(jié)論:在中國(guó)漢族人群中,磷酸二酯酶4D(PDE4D)基因rs1838733位點(diǎn)的單核苷多態(tài)性未發(fā)現(xiàn)與強(qiáng)迫癥的發(fā)病存在關(guān)聯(lián)性,可能不是有標(biāo)記意義的位點(diǎn)。
[Abstract]:Objective: to explore the relationship between phosphodiesterase 4DG PDE4D gene polymorphism and obsessive-compulsive disorder (OCD) in Chinese Han population. Methods: the diagnostic criteria for obsessive-compulsive disorder (OCD) according to International Statistical Classification of Disease and related Health (ICD-10) (10th) were searched for the biomarkers associated with obsessive-compulsive disorder (OCD). Polymerase chain reaction (PCR) was used to amplify the fragment of the target gene, and then restriction endonuclease fragment length polymorphism (RFLP) was used to analyze the sequence difference. The genotypes and alleles of rs1838733 loci of PDE4D gene were determined by PCR-RFLP technique in a total of 859 subjects who met the inclusion criteria. It included 400 patients with obsessive-compulsive disorder (OCD) and 459 healthy controls. The relationship between this locus and obsessive-compulsive disorder (OCD) was analyzed. According to the characteristics of the disease, the genotype frequency of the locus was compared according to sex and age. Relationship between allele frequency distribution and obsessive-compulsive disorder. Results: H-W test. The rs1838733 locus of phosphodiesterase 4D gene was in accordance with the Hardy-Weinderg equilibrium law (p0.05A). GG, there was no significant difference in genotype frequency and allele frequency distribution of this locus (P 0.05). According to sex and age stratification, there was no significant difference in genotype frequency and allele frequency distribution between the two groups. Conclusion: in Chinese Han population, there is no significant difference in genotype frequency and allele frequency distribution. The single nucleoside polymorphism of the rs1838733 locus of phosphodiesterase 4D / PDE4D gene was not associated with the onset of obsessive-compulsive disorder (OCD) and might not be a marker site.
【學(xué)位授予單位】:青島大學(xué)
【學(xué)位級(jí)別】:碩士
【學(xué)位授予年份】:2017
【分類號(hào)】:R749.7
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