眼睛单基因疾病诊断.pptxVIP

眼睛单基因疾病的早期诊断1. 遗传物质的存在2. 遗传与分离规律3. 显性遗传和隐性 遗传规律X- 连锁 遗传规律核酸（ nuclein （ now /wiki/Nucleic_acidnucleic acids ））的发现核苷酸碱基（ A T G C U) 的发现遗传物质 DNA 与基因和染色体的联系（ 1944 ）DNA 结构DNA 测序Human Genome Project C ompleted in 2003, the Human Genome Project (HGP) was a 13-year project coordinated by the U.S. Department of Energy and the National Institutes of Health. During the early years of the HGP, the Wellcome Trust (U.K.) became a major partner; additional contributions came from Japan, France, Germany, China, and others. identify all the approximately 20,000-25,000 genes in human DNA, determine the sequences of the 3 billion chemical base pairs that make up human DNA, store this information in databases, improve tools for data analysis, transfer related technologies to the private sector, and address the ethical, legal, and social issues (ELSI) that may arise from the project. Though the HGP is finished, analyses of the data will continue for many years.????????测 序花 费 直 线 下降单 基因疾病 （ polygenic diseases)多基因疾病 (polygenic diseases) 视觉形成化学信号 光信号不可逆的视力下降甚至失明基因突变-3-/education/materials/HyperVis/vision/eyebrain.htm Ptosis( 眼 睑 下垂） Most cases are in syndromesA number sign (#) is used with this entrybecause the blepharophimosis-ptosis-intellectual disability syndrome (BPIDS) iscaused by heterozygous mutation in theUBE3B gene ( /entry/608047608047 ) on chromosome12q23./wiki/Ptosis_(eyelid)Ptosis_(eyelid)omimStrabismus( 斜 视 ）Overall, esotropia is more common than exotropia. 先天性眼外肌纤维化 congenital fibrosis of extraocular muscles-1 (CFEOM1) is caused by heterozygous mutation in the KIF21A gene ( /entry/608283608283 ) on chromosome 12q12 CFEOM2 ( /entry/602078602078 ), an autosomal recessive disorder caused by mutation in the ARIX gene ( /entry/602753602753 ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position. /wiki/wiki and OMIMNystagmus( 眼球震 颤 )most cases are in syndromesA number sign (#) is used with this entry because of evidence that childhood-