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DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children 被引量:3
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作者 Yun Chen Hua Zhao +1 位作者 Yi-xin Zhang Peng-xiang Zuo 《Neural Regeneration Research》 SCIE CAS CSCD 2017年第2期259-266,共8页
Developmental dyslexia is a complex reading and writing disorder with strong genetic components. In previous genetic studies about dyslexia, a number of candidate genes have been identified. These include DCDC2, which... Developmental dyslexia is a complex reading and writing disorder with strong genetic components. In previous genetic studies about dyslexia, a number of candidate genes have been identified. These include DCDC2, which has repeatedly been associated with developmental dyslexia in various European and American populations. However, data regarding this relationship are varied according to population. The Uyghur people of China represent a Eurasian population with an interesting genetic profile. Thus, this group may provide useful information about the association between DCDC2 gene polymorphisms and dyslexia. In the current study, we examined genetic data from 392 Uyghur children aged 8–12 years old from the Xinjiang Uyghur Autonomous Region of China. Participants included 196 children with dyslexia and 196 grade-, age-, and gender-matched controls. DNA was isolated from oral mucosal cell samples and fourteen single nucleotide polymorphisms(rs6456593, rs1419228, rs34647318, rs9467075, rs793862, rs9295619, rs807701, rs807724, rs2274305, rs7765678, rs4599626, rs6922023, rs3765502, and rs1087266) in DCDC2 were screened via the SNPscan method. We compared SNP frequencies in five models(Codominant, Dominant, Recessive, Heterozygote advantage, and Allele) between the two groups by means of the chi-squared test. A single-locus analysis indicated that, with regard to the allele frequency of these polymorphisms, three SNPs(rs807724, rs2274305, and rs4599626) were associated with dyslexia. rs9467075 and rs2274305 displayed significant associations with developmental dyslexia under the dominant model. rs6456593 and rs6922023 were significantly associated with developmental dyslexia under the dominant model and in the heterozygous genotype. Additionally, we discovered that the T-G-C-T of the four-marker haplotype(rs9295619-rs807701-rs807724-rs2274305) and the T-A of the two-marker haplotype(rs3765502-1087266) were significantly different between cases and controls. Thus, we conclude that DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children. 展开更多
关键词 nerve regeneration developmental dyslexia single nucleotide polymorphisms Xinjiang Uyghur Autonomous Region elementary school students genetics reading disability gene polymorphisms etiology case-control study neural regeneration
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Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders 被引量:2
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作者 Mahavir Singh Suresh C Tyagi 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2018年第1期117-134,共18页
Past 25 y have witnessed an exponential increase in knowledge and understanding of ocular diseases and their respective genetic underpinnings. As a result, scientists have mapped many genes and their variants that can... Past 25 y have witnessed an exponential increase in knowledge and understanding of ocular diseases and their respective genetic underpinnings. As a result, scientists have mapped many genes and their variants that can influence vision and health of our eyes. Based on these findings, it is becoming clear that an early diagnosis employing genetic testing can help evaluate patients' conditions for instituting treatment plan(s) and follow-up care to avoid vision complications later. For example, knowing family history becomes crucial for inherited eye diseases as it can benefit members in family who may have similar eye diseases or predispositions. Therefore, gathering information from an elaborate examination along with complete assessment of past medical illness by ophthalmologists followed by consultation with geneticists can help create a roadmap for making diagnosis and treatment precise and beneficial. In this review, we present an update on ocular genomic medicine that we believe has tremendous potential towards unraveling genetic implications in ocular diseases and patients' susceptibilities. We also discuss translational aspects of genetic ophthalmology and genome engineering that may help advance molecular diagnostics and therapeutics. 展开更多
关键词 CRISPR/Cas9 precision medicine genetic ophthalmology genome engineering inflammation single nucleotide polymorphism
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Apolipoprotein E genotype in patients with Alzheimer's disease
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作者 罗本燕 陈智 +3 位作者 张艳艳 潘小平 李霞 陈峰 《Chinese Medical Journal》 SCIE CAS CSCD 2003年第8期1220-1222,共3页
Objective To explore the frequency and significance of ApoE gene polymorphisms in patients with sporadic Alzheimer’s disease (AD).Methods Single nucleotide polymorphisms of the ApoE gene were analyzed in 32 cases o... Objective To explore the frequency and significance of ApoE gene polymorphisms in patients with sporadic Alzheimer’s disease (AD).Methods Single nucleotide polymorphisms of the ApoE gene were analyzed in 32 cases of AD and 26 controls,using PCR and gene sequencing.Results The single nucleotide polymorphism of ApoE gene 462C/G was significantly associated with AD ( P <0.05).Conclusions The 462C/G polymorphism might be a specific genotype in Chinese patients with sporadic AD. 展开更多
关键词 Alzheimer disease·genetics·apolipoprotein E · single nucleotide polymorphism
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