眼睛单基因疾病遗传咨询.pptx

眼睛单基因疾病的早期诊断与遗传咨询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/wiki/X-连锁遗传规律/wiki/核酸（nuclein（now /wiki/Nucleic_acidnucleic/wiki/Nucleic_acid /wiki/Nucleic_acidacids））的发现/wiki/核苷酸碱基（A T G C U)的发现/wiki/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? Completed in 2003, the Human Genome Project (HGP) was a 13-year project coordinatedby the U.S. Department of Energy and the National Institutes of Health. During the earlyyears of the HGP, the Wellcome Trust (U.K.) became a major partner; additionalcontributions 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, andaddress 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)视觉形成不可逆的基因突变视力下降甚至失明化学信号光信号- 3 -/education/materials/HyperVis/vision/eyebrain.htmRPE眼科临床检查病人主述，症状，体征，视力，眼底（镜，照相），血管造影，眼压，OCT，房角，视野，电生理（ERG)，角膜，眼轴，病理，房水，CT，MRI，实验室检查（血常规，生化，免疫，微生物等）…基因诊断……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)/wiki/Ptosis_(eyelid)omimStrabismus(斜视）Overall, esotropia is more common than exotropia.先天性眼外肌纤维化congenital fibrosis of extraocularmuscles-1 (CFEOM1) is caused by heterozygousmutation in the KIF21A gene (/entry/608283608283) on chromosome12q12CFEOM2 (/entry/602078602078), an autosomal recessive disorder causedby mutation in the ARIX gene (/entry/602753602753) on chromosome 11q13,is characterized by bilateral ptosis with eyes fixed in anexotropic position./wiki/wikiand OMIMNyst