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GENETIC - Coggle Diagram
GENETIC
GENETIC
DISORDER
Single Gene Disorders
also referred as Mendelian disorders) that are caused by a defect in just one gene. Example : Inborn errors of metabolism (Phenylketonuria), Albinism, Brachydactyly, Huntington’s disease.
Autosomal recessiveAutosomal recessive inheritance pattern: (recessive gene is “d” and normal gene is “N”) 
Autosomal dominant
Autosomal dominant inheritance pattern: (Either parent can be dominant “D”, and normal gene is “n”, here just for the example, the father is dominant I.e. affected, It is possible to construct a pattern with the mother to be dominant too but it’s not shown here)
X-linked Dominant
X-linked dominant inheritance pattern: (note that either parent can be the one who is affected)
X-linked recessive
X-linked recessive disorders are also caused by mutations in genes on the X chromosome. Males are more frequently affected than females. The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the mutated gene. With each pregnancy, a woman who carries an X-linked recessive disorder has a 50% chance of having sons who are affected and a 50% chance of having daughters who carry one copy of the mutated gene.
Y-linkedY‐linked disorders are caused by mutations on the Y chromosome. Only males can get them, and all of the sons of an affected father are affected. Since the Y chromosome is very small, Y‐ linked disorders only cause infertility, and may be circumvented with the help of some fertility treatments. E.g. Male Infertility
Chromosomal Abnormalities
Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 (which is why the disorder is also called "trisomy 21"). Having an extra copy of this chromosome means that individuals have three copies of each of its genes instead of two, making it difficult for cells to properly control how much protein is made. Producing too much or too little protein can have serious consequences. Genes on chromosome 21 that specifically contribute to the various symptoms of Down syndrome are now being identified.
Multifactorial and Polygenic Disorders
Genetic disorders may also be complex, multifactorial or polygenic, this means that they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Multifactoral disorders include heart disease and diabetes. Although complex disorders often cluster in families, they do not have a clear‐cut pattern of inheritance. This makes it difficult to determine a person’s risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified.
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PROTEIN SYNTHESIS
TRANSCRIPTION
Protein synthesis is the process of forming protein molecules involving the synthesis of amino acids that occur in the nucleus and ribosomes of cells regulated by DNA and RNA. RNA is genetic material in which the nitrogenous bases consist of adenine (A), guanine (G), cytosine (C), and uracil (U). While DNA is a collection of genetic material with molecular units called nucleotides. The DNA molecule is the source of the nucleic acid code which will become amino acids and make up proteins. Meanwhile, RNA molecules are the result of transcription of DNA molecules in a cell which are translated into amino acids for proteins
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INITIATION
RNA polymerase breaks down into DNA molecules which contain the segments which are genes. Within a gene, there are ends called the promoter and the terminator. RNA polymerase will move from the terminator to the promoter to break down the DNA. If RNA polymerase has succeeded in the promoter, the initiation process is complete.
ELONGATION
This process is when RNA polymerase returns to the terminator after reaching the promoter, so that mRNA is formed which will copy the genetic code in DNA.
TERMINATION
The final process of transcription is when the mRNA strand has finished forming and detaches from the DNA to go to the ribosome.
TRANSLATION
When the mRNA carrying the DNA copy manages to bring it to the ribosome, a translation process occurs, namely the process of translating or deciphering the genetic code of the DNA copy that has been carried by the previous mRNA. This genetic code will produce polypeptides as a building block for proteins.
INITIATIONAt
this stage the mRNA arrives carrying the DNA codons up to the ribosome. The first codon that meets the ribosome is called the start codon or AUG.
ELONGATION
codons carried by the mRNA will be broken down or translated into amino acids, then each of them will be combined with the tRNA that carries the amino acids to make up the protein. So that the combination will form a polypeptide chain.
TERMINATION
The final translation process is when one of the stop codons between UAA, UAG, or UGA meets a ribosome which then becomes a stop codon or AUU.
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