Molecular Diagnostics and Genetics PDF
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San Lorenzo Ruiz College of Ormoc, Inc.
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This document is an informational text about molecular diagnostics and the basics of genetics, covering DNA, RNA, and their functions. It discusses the chemical basis of heredity, nuclear and mitochondrial DNA, and related concepts. It lays a foundation for further study into molecular biology and related fields.
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210 Molecular Diagnostics APPLICATION 1. Detect cause of disease state (diagnosis) 2. Predict disease progression 3. Paternity and forensic analysis DNA REPLICATION (SEMI-CONSERVATIVE) 4. Gene therapy and d rug design...
210 Molecular Diagnostics APPLICATION 1. Detect cause of disease state (diagnosis) 2. Predict disease progression 3. Paternity and forensic analysis DNA REPLICATION (SEMI-CONSERVATIVE) 4. Gene therapy and d rug design 1. DNA strands separate (hclicasc enzyme) Genetics and Molecular Biology 2. Pairing the bases in each strand with new bases to form complementary DNA THE CHEMICAL BASIS OF HEREDITY strands (DNA polymerase) 1. Biological " blueprint" 3. Produce two new DNA strands (exact 2. Carries information for cells to live, duplicate of original DNA) grow, differentiate, and replicate THE HUMAN CHROMOSOME 3. Provides consistency and variability 1. Single linear duplex DNA GENETIC UNITS OF HUMAN DNA 2. Numerous protein interactions 1. Nuclear DNA a. Diploid genome (two sets of 3. Karyotype chromosom es) a. Looking for normality in number b. Packaged in 23 pairs of and structur e chromosomes b. Number ed by size and centromere c. 22 homologous pairs (a utosomes) position d. 2 sex chromosomes (XX or XY) ❖ short arm -p e. 6 billion b ases ❖ long arm - q f. Approximately 30,000 genes ❖ regions counted from centromere out 2. Mitochondrial DNA (non-nuclear ) c. Pattern produced by intensity of a. 16,569 base pairs stain or fluoresence h. 37 genes d. Genot ype - genes on homologous c. Higher mutation rate chromosomes d. 128 naturally occurring ❖ gene 1 - a,b polymorphisms ❖ gene 2 - r ,s e. Maternal inheritance ❖ gene 3 - t,t 3. DNA/ RNA comprised of 2 types of e. Haplotype - genes on one nitrogen bases: chromosome ❖ left chromosome - at a particular a. Purines ❖ Adenine A DNA RNA locus defining genes 123 - b,s,t ❖ Guanine G DNA RNA ❖ right chromosome - genes 123- b. Pyrimidines a,r,t ❖ Cytosine C DNA R NA ❖ Th ymine T DNA ❖ Uracil U RNA d. Hydrogen bonds can form h etw6€n a pyrimidine and a purine e. Watson-Crick base pairing A=T, G =C 4. DNA double helix a. Nucleotide bases p air together to form "base pairs", A always binds 1 b to T ( U in RNA) , C always binds to G 2 s b. DNA double helix are oriented in opposite directions. 3 t c. 5' end is beginning of DNA strand d. 3' end is end of DNA strand
