【摘要】：目的:苗勒氏管發(fā)育異常(Müllerian duct anomalies,MDAs)是指在胚胎發(fā)育時期由于苗勒氏管發(fā)育停滯、不良或融合、吸收不全而引起的一類先天性女性生殖系統(tǒng)畸形的疾病。本實驗主要探索女性苗勒氏管發(fā)育異常的發(fā)病與相關(guān)候選基因單核苷酸多態(tài)性位點的遺傳學(xué)聯(lián)系。方法:本實驗收集我院經(jīng)宮腹腔鏡或輸卵管造影確診的苗勒氏管發(fā)育異常的患者的外周血標(biāo)本362例,收集406例因輸卵管因素或是男方因素不孕的苗勒氏管發(fā)育正常的女性的外周血標(biāo)本作為對照,提取所有外周血白細胞中的DNA備用。利用1000 genome數(shù)據(jù)庫和Hap Map數(shù)據(jù)庫挑選針對HOXA9(rs7810502),HOXA13(rs757181),WNT5A(rs7622120),WNT9B(rs12601196,rs4968280),KISS1(rs2510,rs4889),RARA(rs482284,rs9303286),LHX1(rs3785949),EMX2(rs2240776),CFTR(rs213950),RARG(rs6580936,rs941138,rs1465058)這10個基因的15個單核苷酸多態(tài)性(single nucleotide polymorphism,SNP)位點,使用Sequenome Massarray質(zhì)譜陣列技術(shù)對這些位點進行分型并采集數(shù)據(jù),并在病例組及對照組之間應(yīng)用SPSS13.0統(tǒng)計軟件進行位點基因型分布及等位基因頻率的統(tǒng)計學(xué)比較。結(jié)果:根據(jù)納入標(biāo)準剔除4個SNP位點(rs7810502,rs757181,rs7622120,rs4889)后,對剩余的11個SNP位點在兩組間進行基因型頻率及等位基因頻率的分析,發(fā)現(xiàn)WNT9B基因的rs4968280位點的基因型分布在兩組之間存在統(tǒng)計學(xué)差異(P0.05),在顯性模型中,TC+CC基因型增加了患病的風(fēng)險。但經(jīng)過Bonferroni檢驗校正后,該位點則不具有統(tǒng)計學(xué)差異。其余位點的基因型分布及等位基因頻率在兩組之間并無統(tǒng)計學(xué)差異。結(jié)論:WNT9B基因的rs4968280位點的變異是否影響女性苗勒氏管發(fā)育異常的遺傳易感性,仍需要進一步的研究;其余SNP位點的變異可能與苗勒氏管發(fā)育異常的發(fā)病無關(guān)。
[Abstract]:Objective: M 眉 llerian duct anomalies,MDAs is a kind of congenital malformation of the female reproductive system, which is caused by the malformation, malfunction and absorption of the Mellerian duct during embryonic development. This study was designed to explore the genetic association between the pathogenesis of female Muller's tube dysplasia and the single nucleotide polymorphism (SNP) loci of candidate genes. Methods: 362 peripheral blood samples of patients with abnormal development of Muller's canal diagnosed by hysteroscopy or salpingography in our hospital were collected. The peripheral blood samples of 406 infertile women with normal development of Mullerian canal due to fallopian tube or male factors were collected as control. DNA from all peripheral white blood cells were extracted. Using the 1000 genome database and the Hap Map database to select for HOXA9 (rs7810502), HOXA13 (rs757181), WNT5A (rs7622120), WNT9B (rs12601196,rs4968280), KISS1 (rs2510,rs4889), RARA (rs482284,rs9303286), LHX1 (rs3785949), EMX2 (rs2240776), CFTR (rs213950), RARG (rs6580936,rs941138,) Rs1465058), 15 single nucleotide polymorphic (single nucleotide polymorphism,SNP (SNP) loci of the 10 genes were genotyped by Sequenome Massarray mass spectrometry array and data were collected. The genotype distribution and allele frequency were analyzed by SPSS13.0 software. Results: after 4 SNP loci (rs7810502,rs757181,rs7622120,rs4889) were excluded according to the inclusion criteria, the genotypic and allelic frequencies of the remaining 11 SNP loci were analyzed between the two groups. It was found that the genotype distribution of rs4968280 locus of WNT9B gene was significantly different between the two groups (P0.05), and the genotype of, TC CC increased the risk of disease in dominant model. However, there was no statistical difference in this locus after Bonferroni test. There was no significant difference in genotype distribution and allele frequency between the two groups. Conclusion: it is necessary to further study whether the variation of rs4968280 locus of WNT9B gene affects the genetic susceptibility of female Mullerian tube dysplasia, and the variation of other SNP loci may not be related to the pathogenesis of Maller's tube dysplasia.
【學(xué)位授予單位】：安徽醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R711.1

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