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Understanding Genetics: From Conception to Genetic Disorders

Explore the fundamentals of genetics, covering key concepts such as conception, chromosome structure, and the processes of mitosis and meiosis. Learn how zygotes are formed from the fusion of the ovum and sperm, and how genetic information is inherited through autosomes and sex chromosomes. Delve into polygenic inheritance and common chromosomal abnormalities like Down syndrome and Turner’s syndrome. Understand the impact of maternal age on chromosomal abnormalities and the significance of various genetic disorders, including Tay-Sachs and Cystic Fibrosis.

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Understanding Genetics: From Conception to Genetic Disorders

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  1. Genetics • Conception: ovum and sperm fuse to create zygote • Chromosomes: contain all biologically inherited information (DNA) • Ovum: 23 chromosomes (mom’s contribution) • Sperm: 23 chromosomes (dad’s contribution)

  2. Zygote • 46 chromosomes (23 pairs: 23 from mom and 23 from dad) • 22 pairs are called autosomes • 23rd pair contain the sex chromosomes

  3. Karotype

  4. Mitosis • Cell division resulting in new diploid cells (46 chromosomes) • Chromosomes replicate, then split into two diploid cells

  5. Mitosis Body Cell 46 Chromosomes Daughter Cell 46 Chromosomes Daughter Cell 46 Chromosomes

  6. Meiosis • Cell division resulting in haploid (23 chromosomes) cells • Creation of gametes (sex cells: ovum and sperm)

  7. Meiosis Germ Cell 46 Chromosomes Gamete 23 Chromosomes Gamete 23 Chromosomes

  8. Polygenic Inheritance • Affected by many genes rather than by a single pair.

  9. Sex-linked Chromosomal Abnormalities • Kleinfelter’s syndrome: XXY • XYY syndrome • Fragile X • XXX • Turner’s syndrome

  10. Non Sex-linked Chromosomal Abnormalities • Down Syndrome (Trisomy 21) • Translocation trisomy • Mosaicism • Nondisjunction during meiosis

  11. Down Syndrome

  12. Simian Crease

  13. Maternal Age – Chromosomal Abnormalities • Age Trisomy 21 rate Other chromosomal rate • 20 1/1667 1/526 • 25 1/1250 1/476 • 30 1/952 1/385 • 35 1/378 1/192 • 40 1/106 1/66 • 45 1/30 1/21

  14. Genetic Disorders • TaySachs (autosomal recessive) • Cystic Fibrosis (autosomal recessive) • Phenylketonuria (PKU) (recessive) • Muscular Dystrophy (dominant)

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