Objective:Single nucleotide polymorphisms(SNPs)in the human type A gamma-aminobutyric acid(GABA)receptor beta2 subunit gene(GABRB2)have been associated with schizophrenia and quantitatively correlated with mRNA expres...
Objective:Single nucleotide polymorphisms(SNPs)in the human type A gamma-aminobutyric acid(GABA)receptor beta2 subunit gene(GABRB2)have been associated with schizophrenia and quantitatively correlated with mRNA expression in the postmortem brain tissue of patients with schizophrenia.L-Methionine(MET)administration has been reported to cause a recrudescence of psychotic symptoms in patients with schizophrenia,and similar symptoms have been generated in MET-induced mice.
目的 鉴定三个中国汉族常染色体显性遗传先天性全身终毛增多症家系的致病原因.方法 获得知情同意后收集家系成员外周静脉血,提取基因组DNA.采用Affymetrix GeneChip？ Human Mapping 50K Array Hind 240,对其中一个四代19人的家系1进行...
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目的 鉴定三个中国汉族常染色体显性遗传先天性全身终毛增多症家系的致病原因.方法 获得知情同意后收集家系成员外周静脉血,提取基因组DNA.采用Affymetrix GeneChip？ Human Mapping 50K Array Hind 240,对其中一个四代19人的家系1进行全基因组扫描,使用dChip连锁分析软件进行多点参数连锁分析,针对发现的可能致病基因候选区使用MERLIN,GENEHUNTER,SIMWALK2等连锁分析软件验证.根据全基因组扫描结果 提供的位置信息,在染色体17q24.2-q24.3上选取11个微卫星标记,分别对三个家系进行基因型和单体型分析,验证和精细定位致病基因候选区.采用Affymetrix GenomeWide Human SNP Array 6.0进行拷贝数分析,使用荧光实时定量PCR验证基因组拷贝数变异.
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