单基因遗传病高级遗传讲解.pptVIP

思考题 微卫星扩增疾病是怎样的一组疾病？请概括这些疾病的可能病理机制。 * PITX2: pituitary homeobox transcription factor * Figure 2. Domain structure and mutations of genes asociated with AR malformation. (A) PITX2. Mutations have previously been published in (1,3,7,38–40). Exons are represented by boxes, and introns (not shown to scale) are represented by lines. Gray indicates non-coding mRNA sequence, black indicates DNA-binding domains, and blue indicates autoinhibitory domains. crosshatching indicates nuclear localization signals and nuclear localization accessory domains. Mutations are represented as ovals (missense), arrows (frameshifts), red stars (splicing), red octagons (nonsense) and triangles (inframe duplication). * 第7个 这个突变类型是目前报道中对氨基酸序列改变最为明显的突变类型之一。 The most recent innovation in miRNA detection involves the bead-based flow cytometric method. Each individual bead is marked with fluorescence tags (which can yield up to 100 colors, each representing a single miRNA) and coupled to probes that are complementary to miRNAs of interest. miRNAs are ligated to the 50 and 30 adaptors, reverse-transcribed, amplified by PCR using a common biotinylated primer, hybridized to the capture beads, and stained with streptavidin–phycoerythrin. The beads are then analyzed using a flow cytometer. RT-PCR is unarguably the most sensitive method but could be difficult to use in high-throughput analysis if the number of miRNAs exceeds 300. Although microarray is a powerful method for highthroughput analysis, the small size of miRNAs poses a challenge for conventional microarray techniques because it is difficult to create a single hybridization condition suitable for all miRNAs on the chip. Predicted secondary structure and processing of the wild-type and mutant forms of miR96. Downregulation of predicted primary targets is impaired by the miR-96 (+13GA) and (+14CA) mutations. Lewis MA, Quint E, Glazier AM et al. An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nat Gen