Abstract
Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.
Highlights
All inheritable traits of living organisms are determined by their genetic material, the ‘genome’, a long nucleic acid called deoxyribonucleic acid (DNA)
Successive sugar and phosphate residues are linked by covalent phosphodiester bonds, forming the backbone of the DNA molecule and a nitrogenous base is attached to each sugar
As the phosphodiester bonds link carbon atoms number 3’ and number 5’ of successive sugar residues, the end of each DNA strand will have a terminal sugar residue where carbon atom number 5 is not linked to a neighboring sugar residue, and is called 5’ end
Summary
All inheritable traits of living organisms are determined by their genetic material, the ‘genome’, a long nucleic acid called deoxyribonucleic acid (DNA). The DNA consists of 3 × 109 nucleotides. Each nucleotide is made up of a sugar (deoxyribose), a nitrogenous base (adenine (A), guanine (G), cytosine (C) or thymine (T)) and a phosphate group (Fig. 1) [1,2]. Successive sugar and phosphate residues are linked by covalent phosphodiester bonds, forming the backbone of the DNA molecule and a nitrogenous base is attached to each sugar. The stability of DNA is primarily dependent on the strong covalent bonds that connect the constituent atoms of its linear backbone, and on a number of weak non-covalent bonds that exist. Because of the phosphate group charges present in each nucleotide, DNA is negatively charged and highly soluble in water
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