Objective: Genetic as well as hormonal factors are known to influence the development and clinical course of endometriosis. We aimed to investigate the association among 10 single nucleotide polymorphisms (SNPs) invol...Objective: Genetic as well as hormonal factors are known to influence the development and clinical course of endometriosis. We aimed to investigate the association among 10 single nucleotide polymorphisms (SNPs) involved in the estrogen metabolism and endometriosis and to develop a multiple genetic model. METHODS: In a case-control study, we investigated the genotype frequencies of 10 estrogen metabolizing SNPs in 32 patients with endometriosis and 790 healthy controls using sequencing-on-chip-technology with solid-phase polymerase chain reaction on oligonucleotide microarrays: catechol-O-methy-ltransferase, Val158Met G->A, 17-β-hydroxysteroid dehydrogenase type 1 (HSD17), vIV A->C, cytochrome P450 (CYP), 17 A2 allele T->C, CYP1A1 Mspl RFLP T->C, CYP1A1 Ile462ValA->G, CYP19 Arg264-Cys C->T, CYP19 C1558T C->T, CYP 1B1 Leu432Val, CYP1B1 Asn453Ser, and estrogen receptor alpha. IVS1-401>C. Associations and 2-way interaction models between SNPs were calculated by stepwise logistic regression models. RESULTS: In a univariate model, HSD17 vIV A->C was associated with a significantly increased risk of endometriosis (P = .004; odds ratio 3.9, 95%confidence interval 1.6-9.8). When all 2-way interactions of investigated SNPs were ascertained, no significant interactions among SNPs were observed. In a multivariate model, HSD17 vIV A->C was also significantly associated with endometriosis (P = .002). CONCLUSION: We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vIV A->C as a low penetrance genetic marker of endometriosis.展开更多
目的利用再测序芯片对北京市首例人禽流感病例进行病原筛查和验证。方法采集病例咽拭子和气管抽吸物标本,利用real-ti me RT-PCR进行禽流感病毒H5N1亚型核酸检测;应用病原体再测序芯片对其进行复核,并对其它呼吸道病原体和流感病毒其它...目的利用再测序芯片对北京市首例人禽流感病例进行病原筛查和验证。方法采集病例咽拭子和气管抽吸物标本,利用real-ti me RT-PCR进行禽流感病毒H5N1亚型核酸检测;应用病原体再测序芯片对其进行复核,并对其它呼吸道病原体和流感病毒其它亚型进行筛查。结果气管抽吸物标本经real-ti me RT-PCR检测为禽流感病毒H5N1核酸阳性;再测序芯片检测的结果是获得了H5N1的非结构蛋白基因(NS)特异序列,通过与GenBank进行序列比对,确定为禽流感病毒H5N1核酸,并排除了30种流感病毒亚型和其它33种呼吸道病原体的感染。结论病原体再测序芯片具有高灵敏性和特异性,在北京市首例人禽流感病例的病原学筛查和验证中发挥了重要作用。展开更多
文摘Objective: Genetic as well as hormonal factors are known to influence the development and clinical course of endometriosis. We aimed to investigate the association among 10 single nucleotide polymorphisms (SNPs) involved in the estrogen metabolism and endometriosis and to develop a multiple genetic model. METHODS: In a case-control study, we investigated the genotype frequencies of 10 estrogen metabolizing SNPs in 32 patients with endometriosis and 790 healthy controls using sequencing-on-chip-technology with solid-phase polymerase chain reaction on oligonucleotide microarrays: catechol-O-methy-ltransferase, Val158Met G->A, 17-β-hydroxysteroid dehydrogenase type 1 (HSD17), vIV A->C, cytochrome P450 (CYP), 17 A2 allele T->C, CYP1A1 Mspl RFLP T->C, CYP1A1 Ile462ValA->G, CYP19 Arg264-Cys C->T, CYP19 C1558T C->T, CYP 1B1 Leu432Val, CYP1B1 Asn453Ser, and estrogen receptor alpha. IVS1-401>C. Associations and 2-way interaction models between SNPs were calculated by stepwise logistic regression models. RESULTS: In a univariate model, HSD17 vIV A->C was associated with a significantly increased risk of endometriosis (P = .004; odds ratio 3.9, 95%confidence interval 1.6-9.8). When all 2-way interactions of investigated SNPs were ascertained, no significant interactions among SNPs were observed. In a multivariate model, HSD17 vIV A->C was also significantly associated with endometriosis (P = .002). CONCLUSION: We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vIV A->C as a low penetrance genetic marker of endometriosis.
文摘目的研究单核苷酸多态性(Single Nucleotide Polymorphism,SNP)微阵列和新一代基因捕获测序技术的联合应用对智力障碍或精神发育迟缓儿童的诊断价值。方法通过资料分析法选取2018年9月至2020年3月在南京医科大学附属儿童医院康复门诊接受治疗的智力障碍或精神发育迟缓儿童19名,年龄在6个月至14岁,男童11人和女童8人。分别采用发育诊断量表和韦氏儿童智力量表中国修订本(WISC-RC)对其进行智力评定,发育商低于49分或智商低于51分者纳入本次研究,进行全基因组拷贝数变异(Copy Number Variation,CNV)及致病基因变异分析,对检测的CNV采用定量PCR法进行先证者及父母验证,对明确或疑似致病性基因变异采用双脱氧法测序进行验证和家庭基因谱核查。结果研究表明19名入选者中有16名患儿的SNP微阵列分析结果为阴性,其中6例确认患有单一遗传疾病、7例阴性、3例存在可疑的基因病变(表现在11q24.1q25、21q22.2q22.3、12q22.1q23区域,其是诱发智力障碍和精神发育迟缓的主要病因)。结论SNP微阵列和新一代基因捕获测序技术的联合应用可显著提高不明原因的智力障碍或精神发育迟缓儿童的分子遗传病因诊断概率,通过寻根朔源方式也可为后续诊治方向提供可靠依据,具有重要的临床意义。
文摘目的利用再测序芯片对北京市首例人禽流感病例进行病原筛查和验证。方法采集病例咽拭子和气管抽吸物标本,利用real-ti me RT-PCR进行禽流感病毒H5N1亚型核酸检测;应用病原体再测序芯片对其进行复核,并对其它呼吸道病原体和流感病毒其它亚型进行筛查。结果气管抽吸物标本经real-ti me RT-PCR检测为禽流感病毒H5N1核酸阳性;再测序芯片检测的结果是获得了H5N1的非结构蛋白基因(NS)特异序列,通过与GenBank进行序列比对,确定为禽流感病毒H5N1核酸,并排除了30种流感病毒亚型和其它33种呼吸道病原体的感染。结论病原体再测序芯片具有高灵敏性和特异性,在北京市首例人禽流感病例的病原学筛查和验证中发挥了重要作用。
