单基因遗传病-高级遗传2014.ppt

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