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长沙地区21618例地中海贫血基因检测分析 被引量:2
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作者 彭灿 贺骏 +5 位作者 周世豪 曾果 李红玉 王卫红 徐珍 胡兰萍 《中国产前诊断杂志(电子版)》 2022年第3期21-26,共6页
目的回顾性分析长沙市妇幼保健院地中海贫血基因检测阳性率、变异类型及分布特征。方法对2013年10月至2021年6月就诊的21618例样本进行地贫基因检测,其中2013年10月至2018年12月样本采用Gap-PCR法和PCR-反向斑点杂交法检测,对2018年1月... 目的回顾性分析长沙市妇幼保健院地中海贫血基因检测阳性率、变异类型及分布特征。方法对2013年10月至2021年6月就诊的21618例样本进行地贫基因检测,其中2013年10月至2018年12月样本采用Gap-PCR法和PCR-反向斑点杂交法检测,对2018年1月至2021年6月样本采用PCR+导流杂交法进行检测,罕见地中海贫血基因变异采用电泳和测序进行检测。结果在21618例样本中,共检出8631例地贫携带者,总检出率为39.9%。其中α地贫、β地贫、α合并β地贫分别检出4239、4182、210例,最常见的类型为:--^(SEA)/αα、-α^(3.7)/αα、-α^(4.2)/αα;β^(IVS-II-654)/β^(N)、β^(CD41-42)/β^(N)、β^(CD17)/β^(N);β^(CD41-42)/β^(N)合并-α^(3.7)/αα(14.8%)、β^(IVS-II-654)/β^(N)合并-α^(3.7)/αα(11.4%)、β^(IVS-II-654)/β^(N)合并--^(SEA)/αα(9.5%)、β^(CD41-42)/β^(N)合并--^(SEA)/αα(9.5%)。此外发现7个罕见α地贫基因变异,15个罕见β地贫基因变异和4个新变异,新变异分别为HBA1:c.*51-53(-CCT)、HBB:c.92+4_92+15delggtatcaaggtt、HBA1:c.96-58C>T、HBA2:c.305T>G。结论长沙地区是地贫高发地区,本回顾性研究为长沙地区地贫遗传咨询提供参考。 展开更多
关键词 Α地中海贫血 Β地中海贫血 基因变异谱
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中国北方3-羟基异戊酰肉碱异常患儿代谢及遗传分析 被引量:1
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作者 张万巧 闫磊 +1 位作者 朱丽娜 马秀伟 《临床儿科杂志》 CAS CSCD 北大核心 2023年第10期692-696,共5页
目的 研究血3-羟基异戊酰肉碱(C5OH)增高对诊断相关遗传代谢病(IMD)的意义,并探讨北方人群中该指标异常患儿的疾病谱及遗传学特点。方法 回顾性分析2012年11月至2021年10月住院患儿的IMD筛查诊断资料,包括干血斑串联质谱(MS/MS)、尿液... 目的 研究血3-羟基异戊酰肉碱(C5OH)增高对诊断相关遗传代谢病(IMD)的意义,并探讨北方人群中该指标异常患儿的疾病谱及遗传学特点。方法 回顾性分析2012年11月至2021年10月住院患儿的IMD筛查诊断资料,包括干血斑串联质谱(MS/MS)、尿液气相质谱(GC-MS)检测以及基因变异的高通量测序结果。分析C5OH指标异常患儿的血、尿代谢谱及基因变异谱。结果 53 119例0~7岁住院患儿检出C5OH增高48例(0.090%),结合尿GC-MS分析生化诊断相关IMD 9例(0.017%),且均基因验证。提示多种羧化酶缺乏(MCD)的4例患儿中,2例检出HLCS变异,确诊为全羧化酶合成酶缺乏;2例检出BTD变异,确诊为生物素酶缺乏。提示β-酮硫解酶缺乏症的2例均检出ACAT1变异;提示3羟基3甲基戊二酸尿症的1例检出HMGCL变异。生化诊断未分型疑似MCD或3-甲基巴豆酰辅酶A羧化酶缺乏的2例,1例检出HLCS变异,另1例检出BTD变异,最终确诊MCD。C5OH单一指标假阳性率0.073%,阳性预测值18.75%;合并多指标(C4OH、C3、C5:1)假阳性率0.009%,阳性预测值58.33%;合并尿GC-MS分析无一假阳性,阳性预测值达100%。结论 MCD是血C5OH增高患儿中的主要疾病类型。对于C5OH相关IMD,MS/MS联合GC-MS的代谢分析具有较高的诊断效率及提前指导干预的临床价值。 展开更多
关键词 羟基异戊酰肉碱 串联质 代谢 基因变异谱
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580例育龄妇女携带眼皮肤白化病基因变异情况分析 被引量:2
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作者 温佶俐 金克勤 +3 位作者 杨英 程雪莹 陆慧慧 张翔翔 《中国优生与遗传杂志》 2021年第8期1171-1174,共4页
目的了解金华地区育龄妇女眼皮肤白化病(OCA)基因变异携带率,对眼睛出生缺陷防控提供参考依据,大力预防和降低金华地区眼皮肤白化病患儿的出生率。方法收集2017年10月—2021年2月符合标准的育龄妇女标本580例,用高通量测序技术进行眼皮... 目的了解金华地区育龄妇女眼皮肤白化病(OCA)基因变异携带率,对眼睛出生缺陷防控提供参考依据,大力预防和降低金华地区眼皮肤白化病患儿的出生率。方法收集2017年10月—2021年2月符合标准的育龄妇女标本580例,用高通量测序技术进行眼皮肤白化基因变异筛查,对携带相同基因夫妇进行验证;对临床诊疗中发现眼皮肤白化病患儿随访并检测其父母。结果580例育龄妇女检测中眼皮肤白化病基因变异携带者阳性9例,携带率1.55%。其中OCA1型7例以c.895C>A、c.1265G>A为主,OCA2型2例。临床诊疗中发现生育眼皮肤白化病患儿1例,随访夫妻为OCA2型基因变异携带者分别为c.2438G>A(妻子)和c.1349C>T(丈夫)。结论早期掌握金华地区育龄妇女OCA基因变异携带谱,为提高诊断策略和解释基因诊断提供了依据,为家系的遗传咨询及产前诊断提供依据,为构建一级防控筛查体系提供研究数据。 展开更多
关键词 眼皮肤白化病 基因变异谱 育龄妇女
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Frequency and type of inheritable mutations induced by γ rays in rice as revealed by whole genome sequencing 被引量:6
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作者 Shan LI Yun-chao ZHENG +3 位作者 Hai-rui CUI Hao-wei FU Qing-yao SHU Jian-zhong HUANG 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2016年第12期905-915,共11页
Mutation breeding is based on the induction of genetic variations; hence knowledge of the frequency and type of induced mutations is of paramount importance for the design and implementation of a mutation breeding pro... Mutation breeding is based on the induction of genetic variations; hence knowledge of the frequency and type of induced mutations is of paramount importance for the design and implementation of a mutation breeding program. Although γ ray irradiation has been widely used since the 1960 s in the breeding of about 200 economically important plant species, molecular elucidation of its genetic effects has so far been achieved largely by analysis of target genes or genomic regions. In the present study, the whole genomes of six γ-irradiated M2 rice plants were sequenced; a total of 144–188 million high-quality(Q〉20) reads were generated for each M2 plant, resulting in genome coverage of 45 times for each plant. Single base substitution(SBS) and short insertion/deletion(Indel) mutations were detected at the average frequency of 7.5×10^-6~9.8×10^-6 in the six M2 rice plants(SBS being about 4 times more frequent than Indels). Structural and copy number variations, though less frequent than SBS and Indel, were also identified and validated. The mutations were scattered in all genomic regions across 12 rice chromosomes without apparent hotspots. The present study is the first genome-wide single-nucleotide resolution study on the feature and frequency of γ irradiation-induced mutations in a seed propagated crop; the findings are of practical importance for mutation breeding of rice and other crop species. 展开更多
关键词 Mutation breeding γ rays Mutation spectrum Genomic variation
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A consensus linkage map of common carp (Cyprinus carpio L.) to compare the distribution and variation of QTLs associated with growth traits 被引量:4
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作者 ZHENG XianHu KUANG YouYi +5 位作者 LV WeiHua CAO DingChen ZHANG XiaoFeng LI Chao LU CuiYun SUN XiaoWen 《Science China(Life Sciences)》 SCIE CAS 2013年第4期351-359,共9页
The ability to detect and identify quantitative trait loci (QTLs) in a single population is often limited. Analyzing multiple populations in QTL analysis improves the power of detecting QTLs and provides a better unde... The ability to detect and identify quantitative trait loci (QTLs) in a single population is often limited. Analyzing multiple populations in QTL analysis improves the power of detecting QTLs and provides a better understanding of their functional allelic variation and distribution. In this study, a consensus map of the common carp was constructed, based on four populations, to compare the distribution and variation of QTLs. The consensus map spans 2371.6 cM across the 42 linkage groups and comprises 257 microsatellites and 421 SNPs, with a mean marker interval of 3.7 cM/marker. Sixty-seven QTLs affecting four growth traits from the four populations were mapped to the consensus map. Only one QTL was common to three populations, and nine QTLs were detected in two populations. However, no QTL was common to all four populations. The results of the QTL comparison suggest that the QTLs are responsible for the phenotypic variability observed for these traits in a broad array of common carp germplasms. The study also reveals the different genetic performances between major and minor genes in different populations. 展开更多
关键词 common carp consensus map comparative QTL analysis growth-related traits
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