DNA & Genes - The Human Genome and Inheritance

DNA & Genes - The Human Genome and Inheritance Medical Notes

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Description:Simply, the different types of sequences that make up the total DNA of a human cell

Tags:DNA,Genes,the Human Genome,Inheritance

Published on: Jan 11, 2017 | Views : 70 | Downloads : 0

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DNA & Genes - The Human Genome and Inheritance Khushbu Shrivastava Gupta Editor @MedicPresents Master of Technology (M.Tech.), Biotechnology
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What is the human genome? Simply, the different types of sequences that make up the total DNA of a human cell • 3 billion base pairs • about 22 000 genes • Only 2 % of the DNA encode proteins • Genes include exons and introns • 50 % repeated sequences (called "junk DNA") 23 chromosome pairs  46 chromosomes 44 autosomes, 2 sex chromosomes X and Y –chromosomes XX female XY Male Chromosomes carrying the same genes are called homologous Mutations - Heard of those mutants in Hollywood movies? - Well, this is what it is - Alterations in DNA sequence - Some are normal DNA variation - Caused by chemical and physiological agents - and errors in DNA replication - Cells can repaire some mistakes - If not repaired, changes in DNA sequence - are made permanent by DNA replication Point mutations: Single base mutations: 1. Missense mutation: leads to an amino acid change 2. Silent mutation: does not change the amino acid 3. Nonsense mutation: causes premature stop-codon Identify and target internal referrals if you are a medical and healthcare organization. Similarly, tap your existing fan base of you are and individual Professional. Frameshift mutations: insertion/deletion dublication translocation Altered reading frame Severe impacts on protein structure
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Passing on the genetic information: • Information passed on in the sexual reproduction • Needed for new characteristics to develop • Offspring recieve genes by inheriting chromosomes Two important terms... Phenotype: The outlook of an organism Genotype: The genetic information written in DNA All somatic cells 23 chromosome pairs (46 chromosomes) Diploid cells, 2n Sperm cell 23 chromosomes Haploid cell, n Egg cell 23 chromosomes Haploid cell, n
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A chromosome pare: A locus An allele Mitosis Division of somatic cells Products two daughter cells from one parent cell The number of chromosomes does not change DNA duplicates before entering the mitosis Takes 1-2 hours Meiosis Only in gamete formation One diploidic parent cell produces four haploid gametosytes Mature gametocytes have 23 chromosomes (n) Crossing over: Chromatids change parts between homologous chromatids during the meiosis Causes redistribution of hereditary material between the homologous chromosomes  number of genes doesn’t change  new allele combinations are formed Inherited diseases DNA mutations are significant in development of diseases Inherited diseases are caused by mutations passed from a parent to a offspring Monogenic diseases: disease is caused by one mutation in one gene Multifactiorial diseases: disease is caused by interaction of different mutations and environmental factors Mendelian inheritance: Presence or absence of the phenotype depends on the genotype at a single locus Dominant character: only one allele needed to cause the phenotype (heterozygous) Recessive character: both allels needed to cause the phenotype (homozygous)
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Autosomal dominant inheritance: Autosomal recessive inheritance: X-chromosome linked recessive inheritance: X-chromosome linked dominant inheritance: Thank You!

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