医学遗传学genetic diagnosis 1.pptVIP

Genetic Diagnosis-1: Methods in Molecular Medicine 张咸宁 zhangxianning@zju.edu.cn Tel Office: C303, Teaching Building 2014/11 In times of transformation, we are all students！ ● predict individual susceptibility to disease, based on genetic, genomic, and other factors; ● provide more useful tools and individualized programs for disease prevention, based on knowledge of one’s susceptibility; ● detect the onset of disease earlier and before it is clinically evident, based on newly discovered biological markers that arise from changes at the molecular level; ● preempt disease progression, as a result of early detection; ● target medicines and their dose more precisely and safely to each patient, on the basis of a deep understanding of disease mechanism and the role that genetic and genomic factors play in the individual response to drugs. ----Ginsburg GS, Willard HF. Essentials of Genomic and Personalized Medicine. Elsevier, 2010 Areas of Application of Genetic Diagnosis China‘s birth?defect（出生缺陷）rate（卫计委公布，Sep., 2012） Birth?defect: A congenital abnormality（先天性畸形）. Not all are detected at birth or even soon after. ~5.6% ~16 million neonates（新生儿）/yr → ~900 000 affected, ~ 270 000 visible at birth Beijing‘s birth?defect?rate, 2013（北京市卫计委, Sep. 11, 2014） ~14.68% for household registered neonates ~26.22% for non-household registered neonates Prevalence of the common monogenetic disorders in China?---No accurate data! ~1% in living birth --- Carter CO. J M Genet 1977;14:316 The estimated affected neonates in China: ~160 000 per year ! Human genome DNA Extraction Venous blood(5 ml) → WBC → lysing buffer (SDS) and protease K → centrifugation, collect supernatant → phenol → centrifugation, collect supernant → RNase A and T1 → phenol → centrifugation, collect supernatant → potassium acetate and EtOH (absolute) → genomic DNA appears (like cotton fiber) Million