Genetics and Genomics for the Cardiologist - download pdf or read online

By Gian Antonio Danieli (auth.)

ISBN-10: 1461353572

ISBN-13: 9781461353577

ISBN-10: 1461510252

ISBN-13: 9781461510253

Genetics and Genomics for the Cardiologist is a concise, yet entire quantity for the scientific heart specialist or clinical pupil attracted to studying how molecular genetics is now being utilized to prevention and remedy of middle ailments, from DNA exams to pharmacogenomics and gene-based therapeutics. the amount, written in a undeniable language, includes special figures. A wealthy thesaurus, 3 appendices, many references and a number of other URLs supply extra resources of information.

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Extra info for Genetics and Genomics for the Cardiologist

Example text

Adams, 1992; 1993). .. ~ ---~. ~---------. ~u - _. . -------~ ------------~. 1: ESTs sequencing. The sequencing of random segments of cDNA molecules (obtained by retro-transcription of a mixture of mRNAs extracted from a tissue) would identify single trancripts and would produce a reliable representation of the composition of the original cDNA library (from SAGE website, modified) Venter's method underwent a further improvement in 1992, by K. Okubo, who selected to "cut" the tail of each cDNA by aid of the restriction enzyme MboI and to sequence only this 3' end segment, about 250 nt long, which they called "gene signature".

Each human somatic cell harbours more than 1000 molecules of mtDNA, derived from those of the mytochondria of the zygote. Mitochondria undergo division by fission, independently of the timing of cell division; replicates of mtDNA are distributed among the newly formed mitochondria and, at each cell division, mitochondria are distributed between the two daughter cells, at random. Mutations occur in mtDNA more frequently than in nuclear DNA, since mtDNA is exposed to a rather mutagenic environment (peroxides are very abundant within the mitochondrion) and it lacks associated nucleoproteins and efficient repair systems.

SNPs are very good DNA markers, which are presently used for mapping genes involved in multifactorial diseases (see Chapter 3) and for attempting to reconstruct the biological history of human populations. - ~ (CAl,. lJ! GT _GT_G! • amplicon. 32 - 112 nt AUe'. l! lGlIWlJ • amplicon = 80. 108 nt ~ (CA)" I ====~=F====~~l~l~N~M~IM~~~ Alle'e 3 ~ t amplicon- 80 + 22 - ~I 102 nt Figure l,S. Polymorphism of length of PCR amplified products. Amplicons obtained using the two PCR primers F and R, will differ in length, because of the variable number of dinucleotide (CA) repeats within the DNA sequence recognized by the two PCR primers (from Strachan, modified).

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Genetics and Genomics for the Cardiologist by Gian Antonio Danieli (auth.)


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