目的探讨妊娠期糖尿病(GDM)患者孕24~28周的75 g口服葡萄糖耐量试验(OGTT)血糖异常项数及妊娠晚期分娩前血糖值与妊娠结局的关系。方法选择2019年11月—2020年5月在广州医科大学附属妇女儿童医疗中心进行产检并在孕24~28周确诊的167例GD...目的探讨妊娠期糖尿病(GDM)患者孕24~28周的75 g口服葡萄糖耐量试验(OGTT)血糖异常项数及妊娠晚期分娩前血糖值与妊娠结局的关系。方法选择2019年11月—2020年5月在广州医科大学附属妇女儿童医疗中心进行产检并在孕24~28周确诊的167例GDM患者为研究对象,将孕24~28周75 g OGTT结果中仅其中1项时间点血糖异常的孕妇为GDMⅠ组(92例),2项异常为GDMⅡ组(48例),3项异常为GDMⅢ组(27例),比较三组血糖异常项数GDM患者的人口学特点;并分析GDM患者一般人口学特征与妊娠晚期分娩前血糖监测均值的关系,及血糖值对不良妊娠结局的影响。结果75 g OGTT血糖异常项数与孕前不同的体质指数(BMI)及妊娠晚期的糖化血红蛋白(HbA1c)间比较差异均有统计学意义(P<0.05)。孕前BMI指数水平对妊娠晚期的空腹血糖、餐后1 h血糖、餐后2 h血糖比较差异均有统计学意义(P<0.05);75 g OGTT血糖异常项数对空腹血糖及餐后2 h血糖比较差异有统计学意义(P<0.05);③空腹血糖不同水平组在新生儿低血糖、胎膜早破、早产不良结局中比较,差异有统计学意义(P<0.05)。餐后2 h不同血糖水平间组在新生儿低血糖及胎膜早破中比较,差异有统计学意义(P<0.05)。结论孕前BMI指数与妊娠中期75 g OGTT的血糖筛查结果有关,75 g OGTT试验中血糖异常项数越多不良妊娠结局的发生概率越大,妊娠期进行规范化的运动饮食干预和必要时的药物干预后可改善妊娠晚期的HbA1c水平。展开更多
Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening fr...Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province.Hematological screening was performed,and molecular parameters were assessed.Results The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-thalassemia.The highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),respectively.Fourα-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in China.Furthermore,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,respectively.Conclusion Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population.The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.展开更多
目的明确7例血红蛋白电泳检出的异常条带产生的基因分子基础,探讨基因型与血液学表型的关系。方法用血常规指标和血红蛋白电泳进行表型分析,采用PCR-反向点杂交法检测α地贫和β地贫,应用PCR产物测序技术对α、β基因全长进行测序,检测...目的明确7例血红蛋白电泳检出的异常条带产生的基因分子基础,探讨基因型与血液学表型的关系。方法用血常规指标和血红蛋白电泳进行表型分析,采用PCR-反向点杂交法检测α地贫和β地贫,应用PCR产物测序技术对α、β基因全长进行测序,检测基因突变类型。结果 7例样本中检出4种异常血红蛋白突变型:1例中国首次发现的Hb San Bruno(HBB:c.120G>C)、2例Hb New York(HBB:c.341T>A)、2例Hb J-Bangkok(HBB:c.170G>A)、2例Hb G-Coushatta(HBB:c.68A>C),血常规参数均无明显异常。结论云南存在多种异常血红蛋白突变型,多数单纯异常血红蛋白罕见突变都不产生临床表型,但是云南作为地中海贫血的高发地区,异常血红蛋白病合并地中海贫血的临床意义和危害性有待于进一步研究。展开更多
文摘目的探讨妊娠期糖尿病(GDM)患者孕24~28周的75 g口服葡萄糖耐量试验(OGTT)血糖异常项数及妊娠晚期分娩前血糖值与妊娠结局的关系。方法选择2019年11月—2020年5月在广州医科大学附属妇女儿童医疗中心进行产检并在孕24~28周确诊的167例GDM患者为研究对象,将孕24~28周75 g OGTT结果中仅其中1项时间点血糖异常的孕妇为GDMⅠ组(92例),2项异常为GDMⅡ组(48例),3项异常为GDMⅢ组(27例),比较三组血糖异常项数GDM患者的人口学特点;并分析GDM患者一般人口学特征与妊娠晚期分娩前血糖监测均值的关系,及血糖值对不良妊娠结局的影响。结果75 g OGTT血糖异常项数与孕前不同的体质指数(BMI)及妊娠晚期的糖化血红蛋白(HbA1c)间比较差异均有统计学意义(P<0.05)。孕前BMI指数水平对妊娠晚期的空腹血糖、餐后1 h血糖、餐后2 h血糖比较差异均有统计学意义(P<0.05);75 g OGTT血糖异常项数对空腹血糖及餐后2 h血糖比较差异有统计学意义(P<0.05);③空腹血糖不同水平组在新生儿低血糖、胎膜早破、早产不良结局中比较,差异有统计学意义(P<0.05)。餐后2 h不同血糖水平间组在新生儿低血糖及胎膜早破中比较,差异有统计学意义(P<0.05)。结论孕前BMI指数与妊娠中期75 g OGTT的血糖筛查结果有关,75 g OGTT试验中血糖异常项数越多不良妊娠结局的发生概率越大,妊娠期进行规范化的运动饮食干预和必要时的药物干预后可改善妊娠晚期的HbA1c水平。
基金supported by the National Key Research and Development Program of China[2021YFC1005300]the science and technology innovation Program of Hunan Province—Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province[2019SK1010 and 2019SK1011]Hunan Province Clinical Medical Technology Innovation Guidance Project"Screening,prevention and control of single gene disease carriers and panel research in childbearing age people in Hunan Province"[2021SK50602].
文摘Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province.Hematological screening was performed,and molecular parameters were assessed.Results The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-thalassemia.The highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),respectively.Fourα-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in China.Furthermore,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,respectively.Conclusion Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population.The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
文摘目的明确7例血红蛋白电泳检出的异常条带产生的基因分子基础,探讨基因型与血液学表型的关系。方法用血常规指标和血红蛋白电泳进行表型分析,采用PCR-反向点杂交法检测α地贫和β地贫,应用PCR产物测序技术对α、β基因全长进行测序,检测基因突变类型。结果 7例样本中检出4种异常血红蛋白突变型:1例中国首次发现的Hb San Bruno(HBB:c.120G>C)、2例Hb New York(HBB:c.341T>A)、2例Hb J-Bangkok(HBB:c.170G>A)、2例Hb G-Coushatta(HBB:c.68A>C),血常规参数均无明显异常。结论云南存在多种异常血红蛋白突变型,多数单纯异常血红蛋白罕见突变都不产生临床表型,但是云南作为地中海贫血的高发地区,异常血红蛋白病合并地中海贫血的临床意义和危害性有待于进一步研究。
