Genetics Study Notes

1. Genetic is the study of mechanism of heredity bywhich traits or Character are passed From generation to generation in Plant or Animal. 2.human genetics is the study of variation of character in human. 3.3 Gene is the Basic unit of hereditary occupying afixed Locus on achromasome or its part of DNA coding for the formation S.N of single PolyPeptide chain 4 Allele twor or more alternative forms of gene at Pasticular hocus on chromasome 5 Dominant allele→ gene is Dominant when it expresses in Both homozygons or heter zygons 6 Recessive allete → character exPressed only when individual homozygous or hemizygons. 7. homozygous → Person having l Pair of identical allele at particular gene Locus on homologus chromosome 8. heterozygous → Person having different allele (one normal and one mutant) at Particular gene Locus on homoLogus Chromosome 9. Genotype → the genetic constituation of organism 10. PhenotyPe → eXternal appearance of individuaL Determined by his genotype and the enviroment in which they Develope # culturing → Heparinized Blood Phytohaemagglutinin (stimulate Incubation 72hr - 37c0 Cell Divisi öslo - caLichine 2hr hold at metaphase # Harvesting → Hypotonic Solution (Kl) 10 min fixation with Acetic Acid Slide - stain microscope - Photographed # Cytogenetic Analysis @ KaryatyPing : study of chromasome of individuaLl examination of Chromosome under the microscope # normaL KaryotyPing write total number of chromosome then sex chromosome male 46 xy female 46 XX 22 Pair Are Autosomal SNTS 1 Pair are sex # Identification of human Chromosome : ! @ Centromereposition Gli meta centric → middle! 00 - Acro centric → closeto «l Telocentric) p arm End Vi submetacentric → intermediate Position "Between middle Pend " 3 Banding L> stain G # groups of Chromosome according to Length and Centromere : cute→ 1 2 3 Large - metacentric 45 Large - submetacentric 6 →12 x medium - submetacentric 13 14 15 medium - AGrocentric + 16 Short metacent " Satellite» + 1718 Short sub metacentric 19 20 Short metacentric 21 22 → Short acrocentric Sattelite y → short acrocentric nosattelite * Satellite form 13 14 15 21 22 on |4 Terminal segment or Bulge, 199. at Tebmeric End of Chromosome as separated from Body of Chromosone The image is a diagram illustrating the structure of a chromosome. Comparison Between DNA and RNA: DNA Double Strand Nuclus Deoxyribose - Adenine A - Guanine G - thymine T! - cytosine c Phos Phate RNA Single Nucleus - cytoplasm Ribose - Adenine A - Guanine G - Uracil 4! Cytosine C Phosphate # Sex Chromatin (Barr Body) • Infemale - not male • Litle Stainable Body • inactive - half moon Shape Lying against inner surface of nucher membrane BB = namber of X -1 Female XX -1 = 1 BB male x - 1 = 0 imP Klinetilter male XX - 1= 1 Turner Female X - 1=0 Triple x female XXx -1 = 2 For each type, it provides a brief description, characteristics, and examples. The diagram also includes terms like homozygous, heterozygous, carrier, and consanguinity. The image is visually dense with numerous text boxes and arrows connecting different concepts. There is a mix of English and Arabic text, with some abbreviations and symbols used. It covers various types of inheritance, including autosomal dominant, autosomal recessive, X-linked, Y-linked, and others. For each type, it provides a brief description, characteristics, and examples. The diagram also includes terms like homozygous, heterozygous, carrier, and consanguinity. The image is visually dense with numerous text boxes and arrows connecting different concepts. There is a mix of English and Arabic text, with some abbreviations and symbols used. #chromosomaL Abberation : A NumericaL « AbnormaL number normaL Structure» - Aneuploidy & Loss or gaine one or tw Chromosome to normaL haploid number B/C * non Dis Junction 2 Delay movement Tripbidy - Disperm « 69) 3N Tetraploidy - 3 sperm 192H 4N Polyploidy • gain Complet. set of Chromosome «23) AutosomaL mono somy Loss of one chromosome not alive Down 21\ Pataue 13 Edward 1 trisomy → gain ofonh Chromosome alive sex monosomy same female"-turner 45 xo not male KlineFilter Trisomy 47xx y Triplex alive 47xxx superma 47xyy; Male # NumericaL Abberration in sex chromosome male female Klinefelter 47 xxy • Tall stature • Hypagonadism Gynecomastia • metatal Deficiency feminized infertility Lack of secondery It categorizes these abnormalities into male and female categories. For each condition, the diagram provides the name, chromosomal makeup (e.g., 45 XO), and associated physical characteristics or health issues. The diagram uses arrows to indicate relationships between different conditions. Overall, the image offers a visual representation of various sex chromosome abnormalities and their corresponding phenotypes. * NumericaL Abberation in AutosomaL chromosome: monsomy notalive miss Carige - Down • KlineFelter vimp •Turmer if non - DisJunction occur shortly after Zigste formation Lead to formation 2 type of cells monosomic and trisomic cells « Mosaic Personi male orfemale risomy Down Trisomy 21 • Small - Lowset Backward ear upward slanting eye Small nose - Depresse Short stock hand Simian Crease Developement Delay M.R → > Eminem Pataue trisomy134 •Steal eyes • Cleft Palate • PolyDactyL • heart anomalies - sever M-R Edward Trisomy 18 ( t) • OVer- Lapping finger - Prominent forhead -sever M-R