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 Mapping50K Array Hind 240,对其中一个四代19人的家系1进行全...
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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 Mapping50K 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MER- LIN,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 Genome-Wide 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。结果经Affymetrix芯片结合全基因组连锁分析,将家系1的致病基因候选区定位在染色体17q24.2-q24.3(64.37Mb-67.73Mb)内。微卫星标记连锁分析结果显示,另外两个家系致病基因候选区域也定位于此。Affymetrix芯片结合荧光实时定量PCR分析显示这三个家系均在该候选区域存在拷贝数降低现象,且拷贝数降低与疾病共分离。结论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致病基因定位在染色体17q24.2-q24.3区域内,该病是一种基因组疾病,包含ABCA5、ABCA6、ABCA10和MAP2K6基因在内的共同区域的拷贝数突变是导致该病的原因。
RNA editing by adenosine deamination fuels the generation of RNA and protein diversity in eukaryotes,particularly higher organisms. This includes recoding of translated exons, widespread editing of retrotransposon-der...
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RNA editing by adenosine deamination fuels the generation of RNA and protein diversity in eukaryotes,particularly higher organisms. This includes recoding of translated exons, widespread editing of retrotransposon-derived repeat elements and sequence modification of microRNA(miRNA) *** changes can bring about specific amino acid substitutions,alternative splicing and changes in gene expression *** overall
DNA sequencing technology is playing an increasingly important role in biological *** first generation of sequencing technology appeared in *** the past decade,the so-called next-generation sequencing technologies had...
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DNA sequencing technology is playing an increasingly important role in biological *** first generation of sequencing technology appeared in *** the past decade,the so-called next-generation sequencing technologies had emerged and caused a revolution in biological research.
The development of amniote ventricle will take three stages:the single ventricular chamber,the two incompletely septated ventricles and the completed septation of the heart into left and right *** suggested by latest ...
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The development of amniote ventricle will take three stages:the single ventricular chamber,the two incompletely septated ventricles and the completed septation of the heart into left and right *** suggested by latest studies,candidate genes like TBX5 are closely involved in the regulating mechanism of the amniote interventricular septum development,albeit that the molecular mechanism of single ventricle(SV) in human
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