Laboratory Guide to the Methods in Biochemical Genetics (PDF)

Tis book, which is authore d by numerous authoritie p s,resent sas a stand-alone handbook for those working in the feld of human biochemica l genetics I .t is a far cry from the day when ther e were rathe r simple description o sf "side room tests "a , s Garrod calle d them. Garrod recognize d patient s in whom ther ewere disruption s of dynamic b- chemistry t , ha t is of pathway sa , s we now know them. He also recognize d tha t the disruptio n could be inherited h ;ence his descriptiv t eerm "inborn error s of metab- lism". Garrod used his test sto revea l "chemica l individualit ya " ,theme tha t do- nated his writin g and thinkin g throughou h tis lifetim eG . arrod described chemical phenotype s as they were reveale d in his patient s with inborn error s of metabolism. Garrod 's observation is ntroduce a d new paradigm in medica l thinking. Te range and sophisticatio o nf the methods used to describ e the chemica l p- st notype at the beginning of the 21 centur y are very diferen t from those tha t were th availab lt eo Garrod at the beginning of the 20 century T . is new book describe s a spectrum of tests f , rom simple screenin g methods tha t we could al l do, to analytical methods tha t are dependent on technologi e ts ha t very few of us wil l ever use. Behind the chemica l phenotype is a "biochemica p lhenotype" T . e latte d rescribes disorde r in a dynamic function a ;ny functio n tha t modifes a molecul e or moves it from here to there H . ow to measure a functio n tha t can be disrupte d by a mutant gene is an importan t part of this laborato r gy uide.