Shaoqin Rao

Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital

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Rong Zhang

Northwest A&F University

Zongkui Wang

Chinese Academy of Medical Sciences & Peking Union Medical College

Zhao Wu

University of Electronic Science and Technology of China

Ying Lin

Beijing Children’s Hospital

Fang Lü

Chinese Academy of Medical Sciences & Peking Union Medical College

Wanxue Li

Northwest A&F University

Ya Wang

Nankai University

Jing Yang

Institute of Acoustics

Junjie Xu

Sir Run Run Shaw Hospital

Yu Liu

Shenzhen University

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Chinese Academy of Medical Sciences & Peking Union Medical College

Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital

University of Electronic Science and Technology of China

Chinese Academy of Sciences

Sichuan University

Peking University

Central South University

Sun Yat-sen University

Chinese PLA General Hospital

Huazhong University of Science and Technology

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Current status of clinical transfusion practice in Sichuan, China: A cross-sectional survey

Transfusion and Apheresis Science (2017)

Rong Zhang Zhao Wu Zongkui Wang Shengliang Ye Changqing Li

Cross-sectional study

10.1016/j.transci.2017.12.001

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Citations (5)

[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].

Ying Lin Shaoqin Rao Yang Yang

Objective To identify the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda(SEDT)from Southwest China.Methods Linkage analysis with one panel of fluorescently labeled microsatellite markers on chromosome X and mutation screening of SEDL gene by direct sequencing were performed.Results Linkage between SEDT and Xp22.2-Xp23.1 was established with maximum LOD score of 3.82(θ=0)between DXS987 and DXS8051.Upon sequence analysis,a point mutation within exon 4 of the SEDL gene (c.239A＞G)was found which resdted in substitution of histidine with arginine at codon 80(His80Arg).Concluslon A novel missense mutation(H80R)Was identified for SEDL gene in the large Chinese SEDT pedigree. Key words: X-linked spondyloepiphyseal dysplasia tarda; SEDL gene; linkage analysis; gene mutation

Genetic linkage

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Blood transfusion practice: A survey in Sichuan, China

Transfusion and Apheresis Science (2014)

Yu Liu Jia Lin Ling Zhong Yi He Yang Jia

10.1016/j.transci.2014.11.003

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Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population

BMC Medical Genetics (2010)

Ying Lin Pengqiu Li Cai Li Ben Zhang Xin Tang

Abstract Background At least twenty genes/loci were shown to be associated with type 2diabetes in European original populations. Five of these genes were shown to be associated with type 2 diabetes (T2D) in Chinese populations. The purpose of this study was to replicate the association of genetic vairants in the eight diabetes-related genes/loci with type 2 diabetes in a Han Chinese cohort from western part of China. Nineteen single nucleotide polymorphisms (SNPs) from the eight genes/loci including TCF7L2, HHEX, CDKAL1, SLC30A8, PPARG, IGF2BP2, KCNJ11 , and CDKN2A/CDKN2B were genotyped in 1,529 cases and 1,439 controls in a Han Chinese population using the ABI SNaPshot method. The meta-analysis of the association between rs7903146 in TCF7L2 gene and T2D in the Han Chinese was performed. Results Among the eight genes/loci examined, we found that four were significantly associated with T2D. Although previous studies showed that the association between the SNP rs7903146 in the TCF7L2 gene and T2D was controversial within the Han Chinese population, we have confirmed the significant association between the SNP rs7903146 in the TCF7L2 gene and T2D in both this study and the meta-analysis in the population. In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs5015480) in HHEX , one SNP (rs10946398) in CDKAL1 , and three SNPs (rs13266634, rs3802177 and rs11558471) in SLC30A8 were significantly associated with T2D in the population being studied. Conclusions We demonstrated that the variants in TCF7L2, CDKAL1, HHEX , and SLC30A8 genes are associated with T2D in a Han Chinese population.

TCF7L2

SNP

Candidate gene

Genetic Association

Linkage Disequilibrium

10.1186/1471-2350-11-97

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Blood service in the Tibetan regions of Garzê and Aba, China: a longitudinal survey

Transfusion Medicine (2017)

Y. Wang Zhao Wu Yonghua Yin Shaoqin Rao B. Liu

Summary Background Garzê and Aba form the second largest Tibetan‐inhabited area of China. Blood services have never been reported for this region before. Objective To assess the current situation and analyse whether a safe and adequate blood supply has been developed in both Garzê and Aba. Methods We conducted a longitudinal survey covering the period 2011–2016. The subjects of interest were recruited from non‐remunerated voluntary donation, blood testing, clinical transfusion practices and infrastructure of local blood service systems. Results The donation rate and blood collection volume were below the average levels of both the Sichuan Province and mainland China. Component therapy was widely used, but inappropriate usage of whole blood existed. A lack of national specific standards for people on the plateaus led to local blood transfusions being conducted without full clinical assessment. Endemic and frequently occurring disease, such as hydatid disease and gastrointestinal disease, were inevitable risks for blood utilisation and safety. The potential influence of religious belief and traditions, like ‘male‐leaving marriages’, of Tibetans on donor recruitment and blood safety requires further research. Conclusions A relatively safe and complete blood service system has been developed in this region. However, there is still an urgent need for comprehensive and effective support from the government in terms of policies and finance. As an epidemic area of hydatid disease and sexually transmitted disease, this region needs to emphasise public health measures, such as blood safety and inappropriate usage of blood products.

10.1111/tme.12468

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Citations (3)