与发育相关的基因演示文稿.ppt

* 与发育相关的基因 出生缺陷（Birth defect）：即先天性疾病 Malformation畸形 is a primary morphologic defect of an organ or body part resulting from an intrinsically abnormal developmental process (e.g., cleft lip, polydactyly). Dysplasia发育异常 is a primary defect involving abnormal organization of cells into tissue (e.g., vascular malformation). Sequence序列征 is a primary defect with its secondary structural changes (e.g., Pierre Robin sequence, a disorder in which a primary defect in mandibular下颌骨 development produces a small jaw, secondary glossoptosis舌后坠, and a cleft palate) Syndrome综合征 is a pattern of multiple primary malformations with a single etiology (e.g., trisomy 13 syndrome). Deformation变形 is alteration of the form, shape, or position of a normally formed body part by mechanical forces. It usually occurs in the fetal period, not in embryogenesis. It is a secondary alteration. It can be extrinsic, as in oligohydramnios羊水过少 (reduced amniotic fluid), or intrinsic, as in congenital myotonic dystrophy. Disruption畸化 is a morphological defect of an organ, part of an organ, or a larger region of the body resulting from the extrinsic breakdown of, or interference with, an originally normal developmental process. It is a secondary malformation (e.g., secondary limb defect resulting from a vascular event). Developmental Gene Families Model animals: Drosophila melanogaster, frog, mouse, chick, zebra-fish… Transcription factors can switch genes on and off by activating or repressing gene expression. Fundamental embryological processes: induction?(the process in which extracellular signals give rise to a change from one cell fate to another in a particular group of cells), segmentation,?migration,?differentiation,?and?PCD?(apoptosis). These processes are mediated by growth factors, cell receptors, and chemicals (morphogens). Transcription factors These gene regulatory proteins have a transcriptional activation domain and a DNA-binding domain. 4 types of DNA-binding domain: helix-turn-helix,