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Understanding Genetics: From Chromosomes to Genetic Disorders

Discover the intricate world of genetics, from the role of tiny chromosomes in heredity to the manifestation of genetic disorders like Sickle Cell Anemia and Down Syndrome. Learn about genes, gender determination, and diagnostic procedures like amniocentesis and ultrasound.

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Understanding Genetics: From Chromosomes to Genetic Disorders

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  1. Generation to Generation • Chromosomes:Tiny structures with in the nuclei of cells that carry information about heredity traits. • ~Cells in the body contain 46 chromosomes: 23 pairs. • ~At the foundation of chromosomes is the chemical compound- DNA. • ~Specific information about heredity are carried w/in sections of chromosomes called Genes. • Genes: Segments of DNA molecules are paired. • Dominant Genes:genes that generally show up in the offspring whenever they are present. • Recessive Genes:Usually show up only when dominant genes are not present. • (Example: Blue eyes are recessive, Brown eyes are dominant. If mom has blue eyes, and dad has brown eyes, most likely the child will have brown eyes.)

  2. Genes & Gender ~A zygote has 46 chromosomes- 23 each parent. ~Males have xy, y is the shorter chromosome. ~Female has xx, both are the same. ~Ova and sperm have only 1 chromosome ~Ova have only x ~Sperm have x or y *The sex of the child is determined by the type of sperm that finds the egg(Ova).

  3. Genetic Disorders • Sickle Cell Anemia:Disease occurs when a child inherits the hemoglobin (Oxygen-carrying part of blood) gene from both parents. The red blood cells develop a sickle shape and clump together obstructing blood flow and oxygen to the tissues. • ~Symptoms- severe joint and abdominal pain, weakness & kidney disease. • Phenylketonuria: A protein called phenylalanine accumulates in the body, interfering with the development of brain cells causing mental retardation. If caught early, diet & treatment can be given. • Tay-Sachs Disease:Causes destruction of nervous system, blindness, and death during early childhood.

  4. Genetic disorders continued… • Cystic Fibrosis:Makes breathing and digestion difficult, its caused by abnormal genes, one from each parent. • Down Syndrome:Caused by a chromosomal abnormality known as Trisony-21,( the presence of three copies of the 21st chromosome). As a result, the affected person has an extra 47th chromosome in all body cells.

  5. Identifying Disorders • Amniocentesis:A syringe is inserted through the pregnant woman’s abdominal wall into the amniotic fluid surrounding the developing fetus. • ~Performed 16-20 weeks after fertilization. • Ultrasound:Sound waves are used to project light images on a screen. This determines if fetus is in the correct position and how many fetus are in uterus. • Chorionic Villi Sampling: A small piece of membrane is removed from the Chorion ( a layer of tissue that develops into the placenta). Takes place around the 8th week of fertilization. • ~This is done earlier then amniocentesis.

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