Patho: Genetic and Developmental Disorders

Chapter 6

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Heredity
The passage of characteristics from parent to offspring
Deoxyribonucleic acid (DNA)
Type of nucleic acid that contains a sugar (deoxyribose), and it is usually found in the cell nucleus and mitochondria. DNA is responsible for the storage of genetic information.
It is made up of four nitrogenous bases:
PURINES1. Adenine (A)2. Guanine (G)
PYRIMIDINES3. Cytosine (C)4. Thymine (T)
BASE PAIRS:A-T C-G
phosphate bonds connect to form the double helix structure
Genes
Small functional hereditary units located on a specific site of a chromosome. They are made up of pieces of DNA, most genes contain the information, or genetic code for making a specific protein. Genes occur in pairs in somatic (body) cells, and singly in gametes such as ova and sperm.
Codon
A fundamental triplet code necessary for protein synthesis. The sequence of three nitrogenous bases form the codon.
Amino acids
The basic compounds produced by codons. 20 different types of amino acids combine to form the basis of human proteins, produced by RNA, as a result of reading the genetic code.
RNA
Delivers DNA's genetic message to the cytoplasm of a cell where proteins are made.
Messenger RNA (mRNA)
Provides a template for protein synthesis dependent on a codon sequence that is based on that of the complementary strand of DNA (cDNA).
Alternative splicing
Certain pieces of the RNA called exons are retained, and other segments, introns, are excised. The genetic code directs the specific splice location, allowing for a large variety of mRNA molecules to be transcribed from a single gene.
Transfer RNA (tRNA)
Delivers these products into the cell. Each tRNA recognizes and binds to a specific amino acid, which it then transfers to ribosomes.
Ribosomes
Produced by a combination of ribosomal RNA (rRNA) produced in the nucleolus and nuclear ribosomal proteins. These ribosomes are transported from the nucleus to the cytoplasm where they attach to the endoplasmic reticulum, associate with mRNA, and being protein synthesis, also known as translation of the genetic code
Chromosomes
Composed of double-stranded DNA containing threadlike sections of genes, most commonly found in the cell nucleus.
Two chromatids joined by a centromere
Telemores
The DNA segments found at the end of each chromatid
Histones
Spool-like proteins that DNA winds around
Diploid number of chromosomes
23 pairs of chromosomes, or a total of 46
Autosomes
Chromosomes other than a sex chromosome. humans have 44