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新疆地区230例苯丙氨酸羟化酶缺乏症患儿基因突变分析

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国际检验医学杂志 2024年第6期45卷 698-705,710页

作者：刘昱彤冯子奕薛淑媛新疆医科大学公共卫生学院新疆乌鲁木齐830011 乌鲁木齐市妇幼保健院产前诊断中心新疆乌鲁木齐830000 西北大学生命科学学院陕西西安710069

目的探讨新疆地区苯丙氨酸羟化酶(PAH)缺乏症患儿基因变异频率和分布特征。方法将2015年1月1日至2023年2月28日在乌鲁木齐市妇幼保健院确诊的230例PAH缺乏症患儿纳入研究,分析PAH基因变异情况以及比较不同表型患儿的PAH基因变异位点。... 详细信息

目的探讨新疆地区苯丙氨酸羟化酶(PAH)缺乏症患儿基因变异频率和分布特征。方法将2015年1月1日至2023年2月28日在乌鲁木齐市妇幼保健院确诊的230例PAH缺乏症患儿纳入研究,分析PAH基因变异情况以及比较不同表型患儿的PAH基因变异位点。结果新疆地区230例PAH缺乏症患儿共检出441个PAH基因变异位点,总检出率为95.87%。其中,227例患儿检测到2个变异位点,2例患儿仅检测到1个变异位点,1例患儿检测到3个变异位点;复合杂合变异217例,纯合变异10例。高频变异位点为c.158G>A[23.39%(102/441)]、c.728G>A[11.70%(51/441)]、c.688G>A[5.05%(22/441)]、c.721C>T[3.90%(17/441)]、c.611A>G[3.67%(16/441)]、c.1238G>C[3.21%(14/441)]。经典型PKU的高频变异位点为c.728G>A、c.331C>T和c.782G>A;轻度PKU的高频变异位点为c.721C>T、c.1068C>A和c.1301C>A;轻度HPA患儿的高频变异位点为c.158G>A和c.688G>A。以上三种表型之间,高频突变的频率比较差异有统计学意义(P<0.05)。结论新疆PAH缺乏症患儿以轻度HPA为主,明确了新疆地区PAH基因高频变异位点,在三种不同表型中均观察到特异性PAH基因变异位点,可为产前诊断及临床遗传咨询提供理论依据。

关键词：高苯丙氨酸血症苯丙酮尿症基因型表型遗传代谢病

新疆地区新生儿遗传代谢病串联质谱筛查的结果分析

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中国优生与遗传杂志 2024年第4期32卷 869-873页

作者：陈琪朱静潆冯子奕韩丽何金芳薛淑媛石河子大学医学院新疆石河子市832000 乌鲁木齐市妇幼保健院产前诊断中心新疆乌鲁木齐市830000

目的分析新疆地区新生儿遗传代谢病串联质谱筛查结果,获得新疆地区新生儿遗传代谢病高发病种及疾病谱。方法采用串联质谱非衍生化法检测试剂盒,对新疆地区41690例新生儿进行遗传代谢病筛查,将初次筛查阳性的患儿召回复查,两次筛查均为... 详细信息

目的分析新疆地区新生儿遗传代谢病串联质谱筛查结果,获得新疆地区新生儿遗传代谢病高发病种及疾病谱。方法采用串联质谱非衍生化法检测试剂盒,对新疆地区41690例新生儿进行遗传代谢病筛查,将初次筛查阳性的患儿召回复查,两次筛查均为阳性的患儿,需结合临床表现、生化及基因检测进行疾病诊断。结果41690例新生儿中初筛阳性1460例,初筛阳性率3.50%;召回1420例,召回阳性数为127例,最终确诊36例,总发病率为1/1158,阳性预测值为2.50%。36例患儿包含25例氨基酸代谢病(69.44%),2例脂肪酸代谢病(5.56%),9例有机酸代谢病(25.00%)。其中高苯丙氨酸血症最多,检出率1/1668,其次为甲基丙二酸血症,检出率1/8338。结论利用串联质谱筛查技术能够极大地提高筛查效率,实现早发现、早诊断、早治疗,提高患儿预后,对新疆地区出生缺陷防控策略的制订提供数据基础。

关键词：遗传代谢病串联质谱技术新生儿筛查

NIPT-plus提示3pter-p25缺失综合征和Pallister-Killian综合征高风险胎儿1例的遗传学分析

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中国优生与遗传杂志 2024年第5期32卷 986-990页

作者：张乐王丽霞李慧君郭晓利薛淑媛乌鲁木齐市妇幼保健院产前诊断中心新疆乌鲁木齐830001 新疆围产期疾病临床医学研究中心新疆乌鲁木齐830001

目的探讨1例由扩展性无创产前检测(NIPT-plus)提示3pter-p25缺失综合征和Pallister-Killian综合征(PKS)高风险胎儿的遗传学病因。方法选取2023年6月27日于乌鲁木齐市妇幼保健院NIPT-plus检测提示3pter-p25缺失综合征和PKS高风险的1例胎... 详细信息

目的探讨1例由扩展性无创产前检测(NIPT-plus)提示3pter-p25缺失综合征和Pallister-Killian综合征(PKS)高风险胎儿的遗传学病因。方法选取2023年6月27日于乌鲁木齐市妇幼保健院NIPT-plus检测提示3pter-p25缺失综合征和PKS高风险的1例胎儿为研究对象。采集孕妇相关临床资料,对胎儿羊水样本进行羊水染色体G显带核型分析与染色体微阵列分析(CMA),对其父母进行外周血染色体G显带核型分析,孕妇经遗传咨询后引产并对引产胎儿组织进行拷贝数变异测序(CNV-seq)。结果孕妇年龄为36岁,G3P1,因胎儿超声提示“胎儿双侧侧脑室对称、宽12 mm,未见明显胎儿透明隔腔,胎儿单脐动脉”就诊。CMA检测结果提示arr[GRCh37]3p26.3p26.1(61892_7439472)x1,12p13.33p12.2(173787_20064689)x3,缺失和重复片段大小分别为7.2 Mb和19.89 Mb,羊水的染色体核型分析结果为46,Xn,der(3)t(3;12)(p26;p12).arr;胎儿母亲的外周血染色体核型为46,XX,t(3;12)(p26;p12),胎儿父亲的外周血染色体核型正常。引产胎儿组织CNV-seq结果为seq[hg19]del(3)(p26.3p26.1)chr3:g.60000_7420000del,dup(12)(p13.33p12.2)chr12:g.60000_20020000dup,缺失和重复片段大小为7.36 Mb和19.96Mb,与CMA检测结果相符。结论该胎儿同时存在3p26.3p26.1微缺失及12p13.33p12.2微重复变异,根据其母亲染色体核型结果,推测胎儿的染色体变异源自母亲的不平衡配子。应用G显带核型分析与CMA检测技术可诊断胎儿染色体结构异常的类型及来源,从而明确胎儿的遗传学病因。

关键词：扩展性无创产前检测产前诊断 3pter-p25缺失综合征 Pallister-Killian综合征

内蒙古东部肉牛主产区牛肉品质和脂肪特性研究

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食品工业 2024年第2期45卷 340-346页

作者：王莉梅李九月田丰张海鹰郑海英薛树媛内蒙古自治区农牧业科学院呼和浩特010031 通辽市农牧科学研究所通辽028000

选择体重相近的锡林郭勒盟放牧条件下西门塔尔牛和蒙古牛、通辽地区舍饲条件下西门塔尔牛各5头分析肉品质和脂肪特性。结果表明:放牧西门塔尔牛和放牧蒙古牛背最长肌和皮下脂肪黄度值(b*值)和熟肉率均显著高于舍饲西门塔尔(P<0.05);舍... 详细信息

选择体重相近的锡林郭勒盟放牧条件下西门塔尔牛和蒙古牛、通辽地区舍饲条件下西门塔尔牛各5头分析肉品质和脂肪特性。结果表明:放牧西门塔尔牛和放牧蒙古牛背最长肌和皮下脂肪黄度值(b*值)和熟肉率均显著高于舍饲西门塔尔(P<0.05);舍饲西门塔尔牛必需氨基酸和婴儿必需氨基酸显著高于放牧蒙古牛(P<0.05),蒙古牛鲜味氨基酸显著高于放牧西门塔尔牛(P<0.05);肌肉组织脂肪酸而言,放牧蒙古牛饱和脂肪酸显著高于舍饲西门塔尔牛(P<0.05)。就单不饱和脂肪酸而言,放牧西门塔尔牛和蒙古牛显著高于舍饲西门塔尔牛(P<0.05)。就多不饱和脂肪酸而言,舍饲西门塔尔牛显著高于其他2组(P<0.05)。从肌肉肉品质和脂肪特性综合考虑,舍饲西门塔尔牛相比放牧西门塔尔牛具有更高的营养价值,而与舍饲相比放牧方式表现出较优的风味前体物质油酸和亚麻酸趋势。放牧方式下蒙古牛鲜味氨基酸含量显著高于西门塔尔牛。

关键词：蒙古牛西门塔尔牛饲养方式黄膘脂肪肉品质

TORCH联合血清β-hCG、AFP、uE3检测诊断超声软指标异常胎儿价值

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中国计划生育学杂志 2024年第5期32卷 1167-1170页

作者：杨璐嘉刘璇李慧君李阳张翠珍薛淑媛新疆维吾尔自治区乌鲁木齐市妇幼保健院 830000

目的:探究TORCH联合血清人绒膜促性腺激素(β-hCG)、甲胎蛋白(AFP)和游离雌三醇(uE3)检测对超声软指标异常胎儿产前诊断价值。方法:选取2021年7月-2023年12月于本院产前检查胎儿超声软指标异常的孕妇324例(300例单项软指标异常、24例≥... 详细信息

目的:探究TORCH联合血清人绒膜促性腺激素(β-hCG)、甲胎蛋白(AFP)和游离雌三醇(uE3)检测对超声软指标异常胎儿产前诊断价值。方法:选取2021年7月-2023年12月于本院产前检查胎儿超声软指标异常的孕妇324例(300例单项软指标异常、24例≥2项软指标异常)纳入异常组,产前检查健康产妇300例纳入对照组。均行TORCH血清学检测,测定血清AFP、free􀆼β-hCG及uE3水平。对比两组血清TORCH、β-hCG、AFP和uE3检测结果;对比不同软指标异常组血清TORCH、β-hCG、AFP和uE3检测结果;ROC分析TORCH联合血清β-hCG、AFP和uE3对超声软指标异常胎儿产前诊断价值。结果:与对照组相比,异常组血清TORCH阳性率、β-hCG、AFP水平更高,血清uE3水平更低(均P<0.05);与单项软指标异常组相比,多项软指标异常组血清TORCH阳性率、β-hCG、AFP更高,血清uE3水平更低(均P<0.05);ROC工作曲线结果显示,血清TORCH、β-hCG、AFP和uE3联合检测诊断超声软指标异常孕妇的AUC分别为0.927,显著高于指标单独检测,且敏感度和特异度均较高,分别为90.00%和92.59%。结论:对产前检查孕妇行血清TORCH联合β-hCG、AFP和uE3检测,有助于提升超声软指标异常胎儿的产前诊断率,可为临床提供一种准确有效的诊断方法。

关键词： TORCH 人绒膜促性腺激素甲胎蛋白游离雌三醇超声软指标异常胎儿诊断价值

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新疆地区3302例孕妇脊髓性肌萎缩症携带者筛查及产前诊断

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重庆医学 2024年第10期53卷 1508-1511,1518页

作者：张翠珍刘璇李慧君李阳杨璐嘉薛淑媛乌鲁木齐市妇幼保健院产前诊断中心乌鲁木齐830001

目的对新疆地区3302例孕妇进行脊髓性肌萎缩症(SMA)携带者筛查,初步确定该地区孕妇SMA携带率。方法对2020年4月至2023年2月于该院行产前检查的29089例孕妇进行宣教,其中3302例接受SMA携带者筛查,采用荧光定量PCR技术检测运动神经元存活... 详细信息

目的对新疆地区3302例孕妇进行脊髓性肌萎缩症(SMA)携带者筛查,初步确定该地区孕妇SMA携带率。方法对2020年4月至2023年2月于该院行产前检查的29089例孕妇进行宣教,其中3302例接受SMA携带者筛查,采用荧光定量PCR技术检测运动神经元存活基因1(SMN1)外显子7(E7)和外显子8(E8)的拷贝数筛查SMA携带者,并利用多重连接探针扩增(MLPA)技术对夫妻双方均为SMA携带者的高危胎儿进行产前诊断。结果SMA携带者筛查的接受率为11.35%。3302例孕妇中,共发现58例SMA携带者,总携带率为1.76%(1/57);其中汉族45例,携带率为1.63%(1/61);少数民族13例,携带率为2.39%(1/42)。58例携带者中,46例配偶接受SMA检测,结果显示有2对夫妻均为SMA携带者,进一步行胎儿产前诊断,MLPA检测结果提示胎儿均为SMN1 E7和E8杂合缺失,均建议继续妊娠。结论本研究初步确定了新疆地区孕妇SMA携带率,孕妇SMA携带者筛查和高风险胎儿的产前诊断对出生缺陷防控具有重要意义。

关键词：脊髓性肌萎缩症运动神经元存活基因1 多重连接探针扩增携带者筛查拷贝数

Quaternary integrative stratigraphy,biotas,and paleogeographical evolution of the Qinghai-Tibetan Plateau and its surrounding areas

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Science China Earth Sciences 2024年第4期67卷 1360-1394页

作者： Yong WANG Mianping ZHENG Yuan LING shuyuan XIANG Zhaogang SHAO Kexin ZHANG xue KE Xiao LIN Fang HAN Jian’en HAN Institute of Geology Chinese Academy of Geological SciencesBeijing 100037China Institute of Mineral Resources Chinese Academy of Geological SciencesBeijing 100037China Faculty of Earth Sciences China University of GeosciencesWuhan 430074China Chinese Academy of Geological Sciences Beijing 100037China Institute of Geological Survey China University of GeosciencesWuhan 430074China School of Earth Sciences East China University of TechnologyNanchang 330013China Institute of Geomechanics Chinese Academy of Geological SciencesBeijing 100081China

The Quaternary strata on the Qinghai-Tibet Plateau contain rich information about the paleoclimate and environmental evolution,record the evolution process of the Quaternary regional tectonics,paleogeography,and geomorphology of the plateau,and are extremely important areas for studying the Quaternary geological events and regional environmental *** to a comprehensive analysis of the regional stratigraphic data and the development and evolution characteristics of the biota,based on the differences in the lithostratigraphic units,sedimentary characteristics,landforms,and drainage systems,the Quaternary strata on the Qinghai-Tibet Plateau and its surrounding areas are divided into five stratigraphic regions:the Tarim region,Loess Plateau region,Qinghai-Tibet Plateau region,Yunnan-Guizhou Plateau region,and India-Ganges *** Qinghai-Tibet Plateau stratigraphic region is divided into seven stratigraphic sub-regions:the West Kunlun-Karakorum,AltunQilian Mountains,Qaidam-Hehuang,East Kunlun-Bayan Har,Qiangtang,East Xizang-West Yunnan-West Sichuan,and Gangdise-Himalayan *** paper briefly describes the lithostratigraphic units of the seven stratigraphic sub-regions of the Qinghai-Tibet *** to the lithostratigraphic sequence and its sedimentary characteristics,stratigraphic contact relationship,formation age,and evolution of the biota in each stratigraphic sub-region,the Quaternary tectonic paleogeographic evolution of the Qinghai-Tibet Plateau is divided into four stages.(1)The inherited differential uplift stage since the Pliocene(2.6-1.8/1.5 Ma):the regional sedimentary differences were significant,and the stratigraphic distribution was limited,the alluvial-proluvial sandy conglomerate was widely developed along the piedmont,and fluvial and lacustrine deposits were developed in the low-lying areas between the mountains.(2)The mountain range flattening stage(1.8/1.5-1.2/0.8 Ma):the erosion unconformity surfaces around the pl

关键词： Quaternary stratigraphic sedimentary

Estimation of herbage intake and digestibility of grazing sheep in Zhenglan Banner of Inner Mongolia by using n-alkanes

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Animal Nutrition 2015年第4期1卷 324-328页

作者： Changqing Li Alatengdalai shuyuan xue Atsushi Tajima Naoto Ishikawa Faculty of Life and Environmental Sciences University of Tsukuba Inner Mongolia Academy of Agricultural and Animal Husbandry Sciences

To reveal the seasonal dynamics of herbage intake, diet composition and digestibility and clarify the relationship of those with herbage nutrient and botanical composition of grazing sheep in Zhenglan Banner of Inner Mongolia, the n-alkane technique was used to test in sheep grazed during June, August and December. The results showed that the sheep mainly ate Fringed sagebrush, Stipa krylovii and Carex in proportions of 33.5,17.9 and 21.2%, respectively, in spring. In summer, the sheep consumed cleistogenes,Potentilla tanacetifolia, Thyme, etc; the intake of Fringed sagebrush, Carex and Stipa declined. In winter,Fringed sagebrush accounted for 50.1% of herbage intake, and the intakes of Cleistogenes and Stipa krylovii increased to 15.3 and 18.4%, respectively. Herbage intake by the sheep in spring was 1.8 kg DM/d, and digestibility was 71.4%. Herbage intake and digestibility decreased slightly to 1.7 kg DM/d and 68.4%during the summer, respectively and decreased significantly to 1.2 kg DM/d and 36.4% in winter. There were significant correlations between diet composition and CP content in winter, diet composition and botanical composition in summer. A highly positive correlation between herbage intake and digestibility was observed in grazing sheep.

关键词： N-alkane technique Diet composition Grazing sheep Herbage intake

Quaternary integrative stratigraphy, biotas, and paleogeographical evolution of the Qinghai-Tibet Plateau and its surrounding areas

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Science China Earth Sciences 2024年

作者： Yong WANG Mianping ZHENG Yuan LING shuyuan XIANG Zhaogang SHAO Kexin ZHANG xue KE Xiao LIN Fang HAN Jian'en HAN Institute of Geology Chinese Academy of Geological Sciences School of Earth Sciences East China University of Technology Chinese Academy of Geological Sciences Institute of Geological Survey China University of GeosciencesWuhan Institute of Geomechanics Chinese Academy of Geological Sciences Institute of Mineral Resources Chinese Academy of Geological Sciences Faculty of Earth Sciences China University of Geosciences

The Quaternary strata on the Qinghai-Tibet Plateau contain rich information about the paleoclimate and environmental evolution, record the evolution process of the Quaternary regional tectonics, paleogeography, and geomorphology of the plateau, and are extremely important areas for studying the Quaternary geological events and regional environmental *** to a comprehensive analysis of the regional stratigraphic data and the development and evolution characteristics of the biota, based on the differences in the lithostratigraphic units, sedimentary characteristics, landforms, and drainage systems, the Quaternary strata on the Qinghai-Tibet Plateau and its surrounding areas are divided into five stratigraphic regions: the Tarim region, Loess Plateau region, Qinghai-Tibet Plateau region, Yunnan-Guizhou Plateau region, and India-Ganges region. The Qinghai-Tibet Plateau stratigraphic region is divided into seven stratigraphic sub-regions: the West Kunlun-Karakorum, AltunQilian Mountains, Qaidam-Hehuang, East Kunlun-Bayan Har, Qiangtang, East Xizang-West Yunnan-West Sichuan, and Gangdise-Himalayan sub-regions. This paper briefly describes the lithostratigraphic units of the seven stratigraphic sub-regions of the Qinghai-Tibet Plateau. According to the lithostratigraphic sequence and its sedimentary characteristics, stratigraphic contact relationship, formation age, and evolution of the biota in each stratigraphic sub-region, the Quaternary tectonic paleogeographic evolution of the Qinghai-Tibet Plateau is divided into four stages.(1) The inherited differential uplift stage since the Pliocene(2.6–1.8/1.5 Ma): the regional sedimentary differences were significant, and the stratigraphic distribution was limited,the alluvial-proluvial sandy conglomerate was widely developed along the piedmont, and fluvial and lacustrine deposits were developed in the low-lying areas between the mountains.(2) The mountain range flattening stage(1.8/1.5–1.2/0.8 Ma): the erosion u

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