本研究分析汉族人群tap1和tap2基因座等位基因和基因型频率的分布及意义。运用TaqManPCR分型技术调查339例中国健康汉族人群随机样本tap1(transporter associated with antigen processing)和tap2基因座等位基因频率和基因型频率分布,...本研究分析汉族人群tap1和tap2基因座等位基因和基因型频率的分布及意义。运用TaqManPCR分型技术调查339例中国健康汉族人群随机样本tap1(transporter associated with antigen processing)和tap2基因座等位基因频率和基因型频率分布,并计算个体鉴别力、累积鉴别力、多态性信息含量、无偏倚期望杂合性、观察杂合性等遗传参数。结果表明:共有5种tap1等位基因(tap1*0101、020101、020102、0301和0401)和4种tap2等位基因(tap2*0101、0102、0103和0201)被检出,tap1实际检出基因型8种,占理论基因型的53.3%,tap2实际检出基因型6种,占理论基因型60%。Tap1和tap2基因型分型结果符合Hardy-Weinberg定律(p>0.05)。Tap1*0101(79.79%)和tap2*0101(82.74%)在中国汉族人群中分布最广。结论:Tap1*0101和tap2*0101在汉族人群中分布最广。Tap1和tap2基因座具有一定的信息量和个体鉴别能力,可用于人类遗传学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。展开更多
Aim:This study investigated the ATP binding cassette(ABC)transporter(ABCA1,ABCB1,ABCB3,ABCC2 and ABCG2)expression in high grade serous ovarian cancer(HGSOC)tissues,cell lines and primary cells to determine their poten...Aim:This study investigated the ATP binding cassette(ABC)transporter(ABCA1,ABCB1,ABCB3,ABCC2 and ABCG2)expression in high grade serous ovarian cancer(HGSOC)tissues,cell lines and primary cells to determine their potential relationship with acquired chemotherapy resistance and patient outcome.Methods:ABC transporter mRNA and protein expression(ABCA1,ABCB1,ABCB3,ABCC2 and ABCG2)was assessed in publicly available datasets and in a tissue microarray(TMA)cohort of HGSOC at diagnosis,respectively.ABC transporter mRNA expression was also assessed in chemosensitive ovarian cancer cell lines(OVCAR-5 and CaOV3)versus matching cell lines with acquired carboplatin resistance and in primary HGSOC cells from patients with chemosensitive disease at diagnosis(n=10)as well as patients with acquired chemotherapy resistance at relapse(n=6).The effects of the ABCA1 inhibitor apabetalone in carboplatin-sensitive and-resistant cell lines were also investigated.Results:High ABCA1 mRNA and protein expression was found to be significantly associated with poor patient outcome.ABCA1 mRNA and protein levels were significantly increased in ovarian cancer cell lines(OVCAR-5 CBPR and CaOV3 CBPR)with acquired carboplatin resistance.ABCA1 mRNA was significantly increased in primary HGSOC cells obtained from patients with acquired chemotherapy resistance.Apabetalone treatment reduced ABCA1 protein expression and increased the sensitivity of both parental and carboplatin-resistant ovarian cancer cells to carboplatin.Conclusion: These results suggest that inhibiting ABCA1 transporter may be useful in overcoming acquired chemotherapy resistance and improving outcome for patients with HGSOC.展开更多
文摘本研究分析汉族人群tap1和tap2基因座等位基因和基因型频率的分布及意义。运用TaqManPCR分型技术调查339例中国健康汉族人群随机样本tap1(transporter associated with antigen processing)和tap2基因座等位基因频率和基因型频率分布,并计算个体鉴别力、累积鉴别力、多态性信息含量、无偏倚期望杂合性、观察杂合性等遗传参数。结果表明:共有5种tap1等位基因(tap1*0101、020101、020102、0301和0401)和4种tap2等位基因(tap2*0101、0102、0103和0201)被检出,tap1实际检出基因型8种,占理论基因型的53.3%,tap2实际检出基因型6种,占理论基因型60%。Tap1和tap2基因型分型结果符合Hardy-Weinberg定律(p>0.05)。Tap1*0101(79.79%)和tap2*0101(82.74%)在中国汉族人群中分布最广。结论:Tap1*0101和tap2*0101在汉族人群中分布最广。Tap1和tap2基因座具有一定的信息量和个体鉴别能力,可用于人类遗传学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。
文摘Aim:This study investigated the ATP binding cassette(ABC)transporter(ABCA1,ABCB1,ABCB3,ABCC2 and ABCG2)expression in high grade serous ovarian cancer(HGSOC)tissues,cell lines and primary cells to determine their potential relationship with acquired chemotherapy resistance and patient outcome.Methods:ABC transporter mRNA and protein expression(ABCA1,ABCB1,ABCB3,ABCC2 and ABCG2)was assessed in publicly available datasets and in a tissue microarray(TMA)cohort of HGSOC at diagnosis,respectively.ABC transporter mRNA expression was also assessed in chemosensitive ovarian cancer cell lines(OVCAR-5 and CaOV3)versus matching cell lines with acquired carboplatin resistance and in primary HGSOC cells from patients with chemosensitive disease at diagnosis(n=10)as well as patients with acquired chemotherapy resistance at relapse(n=6).The effects of the ABCA1 inhibitor apabetalone in carboplatin-sensitive and-resistant cell lines were also investigated.Results:High ABCA1 mRNA and protein expression was found to be significantly associated with poor patient outcome.ABCA1 mRNA and protein levels were significantly increased in ovarian cancer cell lines(OVCAR-5 CBPR and CaOV3 CBPR)with acquired carboplatin resistance.ABCA1 mRNA was significantly increased in primary HGSOC cells obtained from patients with acquired chemotherapy resistance.Apabetalone treatment reduced ABCA1 protein expression and increased the sensitivity of both parental and carboplatin-resistant ovarian cancer cells to carboplatin.Conclusion: These results suggest that inhibiting ABCA1 transporter may be useful in overcoming acquired chemotherapy resistance and improving outcome for patients with HGSOC.
