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An introduction to Human Genetics PowerPoint Presentation

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Description : Check out this medical titled "An introduction to Human Genetics” by Dr Samah A. Jassam BSc MSc PhD MRSB.

This medical is about Human genetics, the study of how genes and genetic variations influence human traits, diseases, and overall health. It is a field that examines the genetic makeup of individuals and how genetic information is passed from parents to offspring.

Genes are segments of DNA that contain the instructions for making proteins, which are essential for the growth, development, and function of the human body. Each person inherits one copy of each gene from their biological mother and one from their biological father.

Variations in genes can affect traits such as eye color, height, and susceptibility to certain diseases. Some genetic variations are harmless, while others can increase the risk of developing certain diseases, such as cancer or diabetes.

Human genetics also includes the study of genetic disorders, which are conditions caused by mutations or changes in genes. Examples of genetic disorders include cystic fibrosis, sickle cell anemia, and Huntingtons disease.

Advances in genetic research have led to the development of new diagnostic tools and treatments for genetic disorders. Human genetics is an interdisciplinary field that includes genetics, molecular biology, bioinformatics, and biostatistics, among others.

Tags : Human Genetics, genes, genetic variations, DNA, genetic disorders, cystic fibrosis, sickle cell anemia, Huntingtons disease, Medical Genetics, Medical Genetics

Published on : Jun 01, 2023 | Views : 2375 | Downloads : 7

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Slide 1-

An introduction to Human Genetics Lecturer Dr Samah A. Jassam BSc MSc PhD MRSB Al-Mustansiriya University Collage of Pharmacy
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What is the secret behind the transmission of hereditary characteristics from generation to generation?
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Basic Concepts of Genetics/ Mendel`s laws Image obtained from https://www.google.iq/search?q=Gregor+Mendel Mendel's observations led to two laws, regarding the transmission of hereditary characteristics from generation to generation. First law: Principle of Segregation: Two alleles segregate randomly from each other during the formation of gametes. It means, that each gene has two copies (alleles), and each parent will give one copy to a child.
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Second law: Principle of Independent Assortment: Two genes will assort independently of one another in gamete production Basic Concepts of Genetics/ Mendel`s laws Aa Bb Parents Parental Gametes Ab AB aB ab Important teams to know: Alleles: are different versions of the same gene. Homozygous: refers to an individual with two identical alleles. Heterozygous: refers to an individual with two different alleles. Genotype: it refers to the specific allelic composition of an individual. Phenotype refers to the outward appearance of an individual.
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The genetic material: Genome Genome as a term was suggested in 1920 by Hans Winkler, professor of biology (botany) at the University of Hamburg. Genome word is a blend of the words gene and chromosome. The genome can be defined as the genetic material of an organism. It consists of DNA (or RNA in RNA viruses). The genome includes both the genes, (the coding regions), the non-coding DNA and the genomes of the mitochondria and chloroplasts.
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Cytogenetics: the study of chromosomes Cytogenetics is the study of chromosomes and their role in heredity. Cytogenetics focuses on studying structure, composition of chromosomes as well as, diagnosis of chromosomal abnormalities associated with diseases. https://cytogenetics-sites.uchicago.edu/ Among the members of a species, the number of chromosomes is uniform. A normal human karyotype contains 22 pairs of autosomes and one pair of sex chromosomes. A karyotype refers to the number and appearance of chromosomes in the nucleus of a eukaryotic cell. It is also refers to the complete set of chromosomes in a species.
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Chromosome is a thread-like structures, it is consisted of DNA molecule packed tightly and coiled around a specific proteins called histones. Chromosomes are located in the nucleus of eukaryotic cells. What is chromosome? chromosome DNA & Histones DNA Double helix
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The structure of the chromosome Chromatid P-arm(short) Centromere q-arm(long) Telomere Chromatids are two identical parts of each chromosomes. These chromatids are held together at a point named the centromere, which can be located at any point along the length of the chromosome. Telomere is a region of repetitive nucleotide sequences. Telomere is located at each end of a chromosome, it protects the end of the chromosome from deterioration or from fusion with neighbouring chromosomes
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Almost every cell in our body contains 23 pairs of chromosomes, for a total of 46 chromosomes. 22 pairs are called autosomes and 1 pair of sex chromosomes, XX in female and XY in male in each cell. Chromosomal abnormalities can be categorised as: 1- Numerical abnormalities refer to a missing or existing of a whole chromosome to the normal pair. 2- Structural abnormalities occur when part of an individual chromosome is missing, extra, switched to another chromosome, or turned upside down. Chromosomal abnormalities
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Chromosomal abnormality may occur accidentally during: 1- The formation of the egg or the sperm. 2- The early developmental stages of the foetus. 3- Certain environmental factors may play a role in the occurrence of genetic errors. How chromosomal abnormalities may occur? http://www.openaccessjournals.siftdesk.org/articles/full-text/Micronuclei-and-chromosome.html
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Some medicines Street drugs Alcohol Tobacco Toxic chemicals Some viruses and bacteria Some kinds of radiation Certain health conditions, such as uncontrolled diabetes Causes of chromosomal abnormalities
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DNA is the hereditary material in humans and almost all other organisms. Nearly every cell in the body has the same DNA. The deoxyribonucleic acid (DNA) The structure of DNA Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA). Image is obtained from: https://www.thinglink.com/scene
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RNA is a polymeric molecule essential in various biological roles in: coding, decoding, regulation, and expression of genes. The ribonucleic acid (RNA) messenger RNA (mRNA) to convey genetic information transfer RNA (tRNA) molecules to deliver amino acids to the ribosome ribosomal RNA (rRNA) links amino acids together to form proteins The types of RNA Image is obtained from: https://www.thinglink.com/scene
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The main differences between DNA and RNA
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The main differences between DNA and RNA
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The International Human Genome Sequencing Consortium published the first draft of the human genome in 2001 with the sequence of the entire genome's three billion base pairs some 90 percent complete. The full sequence was completed and published in April 2003, the number of human genes appeared to be ranged between 50,000 genes and 140,000 genes. The Human Genome Project (HGP) is an international scientific research project aims to determine the sequence of DNA, to identify and to map all of the genes of the human genome from both a physical and a functional standpoint. The Human Genome Project (HGP) Images obtained from http://www.online-sciences.com/HGP