医学遗传学北京大学.pptVIP

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医学遗传学北京大学.ppt

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Nussbaum RL, et al. 张咸宁,等. Thompson Thompson Genetics in Medicine, 7th ed. （双语版）北京大学医学出版社, 2009. Suggested Readings Turnpenny P, Ellard S. Emerys elements of medical genetics: With Student Consult Access. 14th edition. Churchill Livingstone, 2012 Jorde LB, et al. Medical genetics. 4th ed. Mosby, 2010. Passarge E. Color atlas of genetics. 4th ed. Thieme Medical Publishers, 2013 Scriver CR, et al. The metabolic and molecular bases of inherited disease.8th ed. McGraw-Hill Companies, 2001 Rimoin DL , et al. Emery and Rimoins Principles and Practice of Medical Genetics. 5th ed. Churchill Livingstone, 2006 Tobias ES, et al. Essential Medical Genetics. 6th ed. Wiley-Blackwell, 2011 Schaaf CP, et al. Human Genetics: From Molecule to Medicine. LWW, 2012 Young ID. Medical Genetics. OUP, 2010 Strachan T, Read A. Human molecular genetics. 4th ed. Garland Science, 2010 … Top Journals of Molecular Medicine CNS NEJM Lancet Nature Medicine Nature Genetics AJHG AJMG Nat. Rev. Genet. Annu. Rev. Genomics Hum. Genet. Annu. Rev. Genet. Trends Mol Med Genome Res. Hum. Mol. Genet. Hum. Mutat. J. Med. Genet. Genetics in Medicine Useful Internet Information on any mendelian phenotype: Genome data: ; Information on proteins: Biomedical literature: /entrez/ Human gene mutation database: Human disease genes list: http://bioinfo.weizmann.ac.il/cards Genetic diagnosis: 1966:《MIM》（McKusick VA, 1921-2008） Monogenic disorder(Patterns of single-gene disorder) ZHANG Xian-Ning, PhD zhangxianning@ Tel Office: C303, Teaching Building 2014/09 Monogenic disorder Allele: One of the variant forms of a gene at a particular locus, or location, on a cs. Different alleles produce variation in inherited characteristics such as hair color or blood type. Pedigree: A simplified diagram of a familys genealogy that shows family members relationships to each other and how a particular trait or disease has been inherit