Genetics = Gene: is a portion of DNA that contains the codes for a polypeptide sequence. = Codon: adjacent triplet of nucleotides for a single amino acid, such as AGA for arginine and TTC for phenylalanine. There are 20 common amino acids, but 64 possible codon combinations that make up the genetic code. ‘One amino acid can be coded by more than one triplet Genes can vary gently in size : most extend over 20-40 kbp {kilo base pairs) The length of genes is generally measured in numbers of “base pairs” (bp) purines: guanine(G) & cytosine(C) , adenine(A) & thymine(T) + Transcription: the formation of functional mRNA from nuclear basal DNA. MRNAS: are found mainly in the nucleus, and are polymers of nucleotides containing a ribose- phosphate unit attached toa base. Translation: Is formation of tRNA intracytoplasmic to reach ribosome where codons will be translated into proteins (so its formation of protein in ribosome through Transfer RNA intracytoplasmic + Chromosomes: are massive structures containing one linear molecule of DNA that is wound around histone proteins into small units called nucleosomes. + Diploid human cells have 46 chromosomes, 23 from each parent thus there are 22 homologous pairs + 2 Sex chromosomes {X and Y) which are not homologous The constriction in the chromosome is the centromere, which can either be in the middle of chromosome called metacentric or at the end called acrocentric {most}. The centromere divides the chromosome into short arm (p arm) and long arm (q arm) The terminal end of periphery of chromosome is called Telomere. itis non-coding for proteins, contains hexametric sequence (TTAGGG). The longer the telomere, the longer is the survival of the chromosome. Scanned with CamScanner© Mitochondrial chromosome © Nuclear chramosome = Creu + Uneae + Inmitochondsis + innucteus © Maternal inheritance + Maternal and paternal inheritance + Exons only encode protens ‘+ beens an introns + 1650089 + 32x10’ ‘The mitochondrial chromosomes: circular of approximately 16500 Bp, and every Bp makes Lup part of the coding syster, ‘These genes encode proteins or RNA ‘These proteins are components ofthe mitachondrial respiratory chain involved in the ‘oxidation phosphorylation producing ATP. Diseases caused by mitochondrial chromosomes mutations: ‘+ (PEO: chronic progressive external ophthalmoplegia ‘+ LHON: leber's hereditary optic neuropathy {mest common cause of optic atrophy in young age} ‘+ MELAS: mitochondrial encephalopathy, lactic acidosis, an stroke ike episodes. Pearson's Syndror chromosome chromosome inactivation: process of inactive of one ofthe 2X 1s in female cells Inactivation is random and may affect either X chromosome. = Chromosomal disorders: ‘© Abnormal chromosomal number: ‘= Failure of éysjunction > cab be monosomic (usually abortion and fetus dies), or trisomic ‘+ Trisomy 23 (Patau's syndrome}: low set ears, micro-opthal (87413) ia, learving dificulties Edward's trisomy 18 ‘= Down's Syndrome Trisomy 21 (67 +21)*Increas with mothers >45 year ol. ‘+ ragile Xsyndrome (most common cause of learning iffcuties) ~ Female; Turner $45K0 Triple x $4700 = Male: Klinfeters $ 473007 Double ¥$ 47XYY (tall fertile, incidence in tll criminals, minor mental and psychiatric illness) Others: AO, 49X00 flesrning difficulties and testicular atrophy) Scanned with CamScannerEpigenetics * modifications or alterations in an individual that lead to effect on genetic expression jnot on the genetic material. © N.B. Histones are the backbone of DNA, if it undergoes methylation It will lead to diseases without alteration in the genetic material itself . Factor affecting this process © 1-invivo: pregnant women having vitamin D deficiency will give birth toa child who will probably develop bronchial asthma . * 2-environmental : born in certain season/generation might arise certain diseases without alteration of genetic material. © 3-chemicals. 4-drugs 5- electri ity producing factories Helicase related diseases ; © 1-various cancers * 2-Bloom syndrome; dwarfism , immuno-deficiency , UV days sensitivity 3~ X-linked alpha thalassemia © 4-xeroderma pigmentosa : deafness and blondness , light sensitivity , developmental disabilities © 5-cockayne syndrome : light sensitivity , * Premature aging , short stature © 6 spinal muscular atrophy with respiratory distress Scanned with CamScannerGenome Cram Fakivited—tredentuls faa Parents absent billions. 65 base Plains (ATF 34-jot_~ fo__Co.hed_fo= gene, _____ base Win 45 fo takeout hlnchiten hut Receratfy —_ SEN SSS Here lp Trans fe Seas _C Jumping cheng QnA. f_pyiliconas. aly Soiuk 1 human —tenome saris CWrame sedesony 9 gels with you stop by step Scanned with CamScanner4 leukemia, long — sativa cf abonoemul Cells ——__ 1 lo merase enty pnt. ye a. ( _______Mitochondieia 3 Seca 0 energy _ Pesent—ia Gy to- plasm ; “ r 1 —EXons looping ut a2 WAL Croce scriat >, 4 ees Connection st _Exons_hy. louse —_leael “to _, — spent —funchivacay. pa SM ath iM ey _Syptwas_1—No— bp ent —— 4 ( 4 i ny —mdedon ta E “chiens Somes as odhect function _due_to—_Gortais aby —Exkon. Scanned with CamScanneryon zeetion gp —Bnsacliatien of one Xx Cheemesomes—— Femul: Costain_gens—as.—twale ae. (was — Db nocmal—Chramgsomes—-t Vumbers Cap} alee R_clys fi nctiga»—Stag-e cf miosts that Showel. wee Paretion§ —_Patecaal Ch tome somes iat _2-Chiroma tines —ctad_materna{—— = Chrome Sames__inty 2 chramdtines _qne—theg—_ ot ACh pmetin Freon —Fecthee and {Chromatin From me then NewChromo Some —faifurce 6 Clays teacl—to_Fari lure of 19. 8-940. lan —__ E C mano Samy __ox Jae som Mee Somy portion with you step by step Scanned with CamScannercer 8 photos * June 7, 2021 53 eld Q. pseudogenes is atermrefers WY All Images News Videos Maps _ Bool Pseudogene = En Espafiol. A pseudogene is a DNA sequence that resembles a gene but has been mutated into an inactive form over the course of evolution. A pseudogene shares an evolutionary history with a functional gene and can provide insight into their shared ancestry. © hitps://www.genome.gov > Pseudog... Pseudogene - National Human Genome Research Institute @About featured snippets f@_ Feedback People also ask What are pseudogenes give an example? v Yyodatone Evsalat stay Sate < Avdt Oo a aA : Scanned with CamScanner 64% (01:57pe age oe Fala Sty Sate x A grupo.us.es A < : [ROO 65% (91 12:59 Transposons: Mobile DNA « Class II Transposons * Miniature Inverted-repeat Transposable Elements (MITEs) (Class III) « Transposons in maize in Drosophila in Bacteria « Retrotransposons (Class I) HIV-1 LINEs (Long interspersed elements) SINEs (Short interspersed elements) « Transposons and Disease « What good are transposons? « Retrotransposons and the C-value paradox Transposons are segments of DNA that can move around to different positions in the genome of a single cell. In the process, they may * cause mutations + increase (or decrease) the amount of DNA in the genome. These mobile segments of DNA are sometimes called "jumping genes". There are three distinct types: ¢ Class II Transposons consisting only of DNA that moves directly from place to place. « Class III Transposons; also known as Miniature Inverted-repeats Transposable Tam ants ae RTO, d oO Scanned with CamScanneree ooo real Stay Sate Bee 67% (#1 12:28 1 Altmetric | Metrics Abstract Over half of the human genome is comprised of transposable elements (TE). Despite large-scale studies of the transcriptome in cancer, a comprehensive look at TE expression and its relationship to various mutations or prognosis has not been performed. We characterized the expression of TE in 178 adult acute myeloid leukemia (AML) patients using transcriptome data from The Cancer Genome Atlas. We characterized mutation specific dysregulation of TE expression using a multivariate linear model. We identified distinct patterns of TE expression associated with specific mutations and transcriptional networks. Genes regulating methylation was not associated with significant change in TE d oO Scanned with CamScannerage age Fala Stay Sate x @ livescience.com = _ LIVESCIENCE ST) rtd id Examples By Rachael Rettner - Senior Writer June 25, 2013 @O086060 Epigenetics literally means "above" or "on top of" genetics. It refers to external modifications to DNA that turn genes "on" or “off." These modifications do not change the DNA sequence, but instead, they affect how cells "read" genes. Advertisement Timeless machine ® Porsche Gentre Egypt Learn more d oO Scanned with CamScannerene: ns Fala sty sate RTT tag Examples of epigenetics Epigenetic changes alter the physical structure of DNA. One example of an epigenetic change is DNA methylation — the addition of a methyl group, or a "chemical cap," to part of the DNA molecule, which prevents certain genes from being expressed. Another example is histone modification. Histones are proteins that DNA wraps around. (Without histones, DNA would be too long to fit inside cells.) If histones squeeze DNA tightly, the DNA cannot be "read" by the cell. Modifications that relax the histones can make the DNA accessible to proteins that "read" genes. RECOMMENDED VIDEOS FOR YOU... Scanned with CamScanner