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家族性混合型高脂血症与人类染色体1q21-23连锁 被引量:7
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作者 裴卫东 HeikeBaron +8 位作者 BertramMller-Myhsok HansKnoblauch Saidali al-yahyaee 惠汝太 吴锡桂 刘力生 FriedrichC.Luft HerbertSchuster 《中华医学杂志》 CAS CSCD 北大核心 2000年第1期25-27,共3页
目的 利用中国和德国非隔离人群家族性混合型高脂血症家系证实家族性混合型高脂血症与人类 1号染色体是否存在连锁位点。方法 从德国搜集 2 4个 ( 13 3人 )及中国 12个 ( 81人 )家族性混合型高脂血症家系 ,选择 4个微卫星遗传标记ApoA... 目的 利用中国和德国非隔离人群家族性混合型高脂血症家系证实家族性混合型高脂血症与人类 1号染色体是否存在连锁位点。方法 从德国搜集 2 4个 ( 13 3人 )及中国 12个 ( 81人 )家族性混合型高脂血症家系 ,选择 4个微卫星遗传标记ApoA2、D1S1677、D1S10 4和D1S194 ,利用GENEHUNTER软件包进行多点连锁分析。结果 多点连锁分析显示D1S10 4附近的遗传标记D1S194有最大LODscore值 :HLODD1S194=1 97。连锁家系占总体家系的比例为 17% ,中国和德国家系连锁程度 (中国 ,HLODD1S194=0 97;德国 ,HLODD1S194=1 0 8)及连锁家系的比例 (中国 ,2 6% ;德国 ,13 % )大致相同。结论 中德目标人群的研究结果支持最新的发现 :家族性混合型高脂血症与人类染色体 1q2 1 2 3连锁。 展开更多
关键词 高脂血症 家族性混合型 遗传学
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Association of gene variants with susceptibility to type 2 diabetes among Omanis 被引量:3
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作者 Sawsan al-Sinani Nicolas Woodhouse +12 位作者 ali al-Mamari Omaima al-Shafie Mohammed al-Shafaee Said al-yahyaee Mohammed Hassan Deepali Jaju Khamis al-Hashmi Mohammed al-Abri Khalid al-Rassadi Syed Rizvi Yengo Loic Philippe Froguel Riad Bayoumi 《World Journal of Diabetes》 SCIE CAS 2015年第2期358-366,共9页
AIM:To investigate the association of 10 known common gene variants with susceptibility to type 2diabetes mellitus(T2D)among Omanis.METHODS:Using case-control design,a total of992 diabetic patients and 294 normoglycem... AIM:To investigate the association of 10 known common gene variants with susceptibility to type 2diabetes mellitus(T2D)among Omanis.METHODS:Using case-control design,a total of992 diabetic patients and 294 normoglycemic Omani Arabs were genotyped,by an allelic discrimination assay-by-design TaqMan method on fast real time polymerase chain reaction system,for the following gene variants:KCNJ11(rs5219),TCF7L2(rs7903146),CDKAL1(rs10946398),CDKN2A/B(rs10811661),FTO(rs9939609 and rs8050136),IGF2BP2(rs4402960),SLC30A8(rs13266634)CAPN10(rs3792267)and HHEX(rs1111875).T2D patients were recruited from the Diabetes Clinic(n=243)and inpatients(n=749)at Sultan Qaboos Univesity Hospital(SQUH),Muscat,Oman.Adult control participants(n=294)were volunteers from the community and from those visiting Family Medicine Clinic at SQU,for regular medical checkup.The difficulty in recruiting Omani participants with no family history of diabetes was the main reason behind the small number of control participants in this study.Almost all volunteers questioned had a relativewith diabetes mellitus.Inspite of the small number of normoglycemic controls in this study,this sample was sufficient for detection of genes and loci for common alleles influencing T2D with an odds ratio of≥1.3reaching at least 80%power.Data was collected from June 2010 to February 2012.RESULTS:Using binary logistic regression analysis,four gene variants showed significant association with T2D risk:KCNJ11(rs5219,P=5.8×10^(-6),OR=1.74),TCF7L2(rs7903146,P=0.001,OR=1.46),CDKAL1(rs10946398,P=0.002,OR=1.44)and CDKN2A/B(rs10811661,P=0.020,OR=1.40).The fixation index analysis of these four gene variants indicated significant genetic differentiation between diabetics and controls{[KCNJ11(rs5219),P<0.001],[TCF7L2(rs7903146),P<0.001],[CDKAL1(rs10946398),P<0.05],[CDKN2A/B(rs10811661),P<0.05]}.The highest genotype variation%between diabetics and controls was found at KCNJ11(2.07%)and TCF7L2(1.62%).This study was not able to detect an association of T2D risk with gene variants of I 展开更多
关键词 Type 2 DIABETES GENETICS Oman Casecontrol ASSOCIATION GENE VARIANTS
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High frequency multiscale relationships among major cryptocurrencies:portfolio management implications 被引量:3
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作者 Walid Mensi Mobeen Ur Rehman +2 位作者 Muhammad Shafiullah Khamis Hamed alyahyaee Ahmet Sensoy 《Financial Innovation》 2021年第1期1565-1585,共21页
This paper examines the high frequency multiscale relationships and nonlinear multiscale causality between Bitcoin,Ethereum,Monero,Dash,Ripple,and Litecoin.We apply nonlinear Granger causality and rolling window wavel... This paper examines the high frequency multiscale relationships and nonlinear multiscale causality between Bitcoin,Ethereum,Monero,Dash,Ripple,and Litecoin.We apply nonlinear Granger causality and rolling window wavelet correlation(RWCC)to 15 min-data.Empirical RWCC results indicate mostly positive co-movements and long-term memory between the cryptocurrencies,especially between Bitcoin,Ethereum,and Monero.The nonlinear Granger causality tests reveal dual causation between most of the cryptocurrency pairs.We advance evidence to improve portfolio risk assessment,and hedging strategies. 展开更多
关键词 Cryptocurrency High frequency analysis Nonlinear multiscale causality Rolling window wavelet correlation
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伴胼胝体发育不良和癫痫的遗传性痉挛性截瘫的一个新基因位点
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作者 al-yahyaee S. al-Gazali L. I. +1 位作者 De Jonghe P. 蔡同建(译) 《世界核心医学期刊文摘(神经病学分册)》 2006年第9期17-17,共1页
Background: Hereditary spastic paraplegia (HSP) are classified clinically as pure when progressive spasticity occurs in isolation or complicated when other neurologic abnormalities are present. At least 22 genetic loc... Background: Hereditary spastic paraplegia (HSP) are classified clinically as pure when progressive spasticity occurs in isolation or complicated when other neurologic abnormalities are present. At least 22 genetic loci have been linked to HSP, 8 of which are autosomal recessive (ARHSP). HSP complicated with the presence of thin corpus callosum (HSP-TCC) is a common subtype of HSP. One genetic locus has been identified on chromosome 15q13-q15 (SPG11) for HSP-TCC, but some HSP-TCC families have not been linked to this locus. Methods: The authors characterized two families clinically and radiologically and performed a genome-wide scan and linkage analysis. Results: The two families had complicated ARHSP. The affected individuals in Family A had thin corpus callosum and mental retardation, whereas in Family B two of three affected individuals had epilepsy. In both families linkage analysis identified a locus on chromosome 8 between markers D8S1820 and D8S532 with the highest combined lod score of 7.077 at marker D8S505. This 9 cM interval located on 8p12-p11.21 represents a new locus for ARHSP-TCC. Neuregulin and KIF13B genes, located within this interval, are interesting functional candidate genes for this HSP form. Conclusion: Two consanguineous families with complicated autosomal recessive hereditary spastic paraplegia were clinically characterized and genetically mapped to a new locus on 8p12-p11.21. 展开更多
关键词 遗传性痉挛性截瘫 胼胝体发育不良 新基因位点 癫痫症状 HSP-TCC 常染色体隐性遗传 NEUREGULIN 神经系统异常
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Correction to:High frequency multiscale relationships among major cryptocurrencies:portfolio management implications
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作者 Walid Mensi Mobeen Ur Rehman +2 位作者 Muhammad Shafullah Khamis Hamed alyahyaee Ahmet Sensoy 《Financial Innovation》 2021年第1期1729-1729,共1页
Correction to:Financ Innov 7:75(2021)https://doi.org/10.1186/s40854-021-00290-w Following publication of this article(Mensi et al.2021),the corresponding author reported that his 2nd affiliation was missing.So the cor... Correction to:Financ Innov 7:75(2021)https://doi.org/10.1186/s40854-021-00290-w Following publication of this article(Mensi et al.2021),the corresponding author reported that his 2nd affiliation was missing.So the corresponding author’s affiliations are:1Department of Economics and Finance,College of Economics and Political Science,Sultan Qaboos University,Muscat,Oman 2South Ural State University,76,Lenin Prospekt,Chelyabinsk,Russian Federation The affiliations have been updated in this Correction and in the original article. 展开更多
关键词 AMONG COLLEGE RUSSIAN
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