Gen Bio 1st Half of Q2 PDF

Summary

This document provides a general overview of different types of cell death, such as apoptosis and necrosis, and describes the concept of cancer as uncontrolled cell growth. It also details various genetic disorders, including Turner syndrome, Cri-du-chat syndrome, Down syndrome, Edwards syndrome, and Patau syndrome. Each disorder is discussed in terms of its defining characteristics, potential causes, and associated symptoms.

Full Transcript

Gen bio 1st Half of Q2 DEATH OF A CELL Cell death - Plays a crucial role in maintaining the overall health and functionality of tissues and organs. - When the cell reaches the end of its life or encounters irreparable damage, it may undergo a series of controlled events tha...

Gen bio 1st Half of Q2 DEATH OF A CELL Cell death - Plays a crucial role in maintaining the overall health and functionality of tissues and organs. - When the cell reaches the end of its life or encounters irreparable damage, it may undergo a series of controlled events that lead to its death. 2 types: APOPTOSIS AND NECROSIS Apoptosis - Programmed cell death - Different from an intentional that caused by mechanical injury or infection among cell. - Body’s way to get rid of a cell stuck at the cell cycle checkpoint or in a reparable condition to eliminate cells that are no longer functioning. 1. A normal cell 2. The cell shinks chromatin condenses 3. Membrane starts blebbing organelles disintegrated 4. Nucleus and organelles collapse membrane continues to help 5. Apoptotic bodies form 6. Macrophages phagocytose apoptotic bodies 7. No inflammation Necrosis - Form of a cell death that occurs in response to external factors, such as injury, infections, or toxins. - Typically an uncontrolled and pathological process. - Often involves the swelling and rupture of cells, leading to the release of cellular contents into the surrounding tissue. 1. Always pathological 2. Cell enlargement 3. Loss of membrane integrity 4. Leakage of content 5. Inflammation 6. Nuclear degrneration Cancer - Group of diseases characterized by uncontrolled and abnormal cell division. Tumor - Grows from a single cancer cell Biopsy - The procedure of testing or studying the cell Pathogens - An organism causing disease to its host P53 Gene - Place a crucial role in regulating the cell cycle and preventing the formation of cancerous tumors. - It is often referred as “guardian of the genome” because of its role in maintaining genomic stability. Benign tumor - Cells are not cancerous and won't spread. Malignant tumor - Cells are cancerous and can spread to other tissues and organs. Angiogenesis - Physiological process through which new blood vessels are formed from existing ones. Metastasis - The spread of cancer cells from the place where they first formed to another part of the body. - Travels through the gap where it can enter. CHROMOSOMAL ABNORMALITIES Aneuploidy - A disorder that occurs when a cell has an incorrect number or set of chromosomes. - Due to the non-disjunction of homologous chromosomes during anaphase 1 in meiosis. 2 types 1. Hypoploidy - when chromosome number decreases from normal. (Monosomy) (2n-1) 2. Hyperploidy- when chromosome number increases from normal. (Trisomy) (2n+1) Note: nondisjunction during meiosis 2 have a chance to produce normal. MONOSOMY Turner Syndrome (XO) (1938 ) - Results when one of the x chromosome is missing. - The condition was first described by Henry Turner. Signs: 1. Particularly short and has wide neck. 2. Abroad chest and widely spaced nipples. 3. Arms that turn out slightly at the elbows. 4. Low hairline. 5. Teeth problems. 6. A large number of moles. 7. Small and spoon-shaped nails. 8. A short 4th finger ot toe. CRI-DU-CHAT ( Cat’s cry) SYNDROME - Also known as 5p minus syndrome - Was first described by Dr. Lejeune, who named the disorder after the distinctive cat-like cry. - (May kubit sa 5th chromosome) Signs: 1. High pitched cat-like cry 2. Mental disability 3. Delayed development 4. Distinctive facial features 5. Small head size (microcephaly) 6. Widely-spaced eyes (hypertelorism) 7. Low birth weight 8. Weak muscle tone (hypotonia) in infacy TRISOMY 2 TYPES: 1. AUTOSOMAL RELATED -Down syndrome -Edwards syndrome -Patau syndrome 2. SEX RELATED -Klinefelter syndrome -Jacob syndrome -Super Female Down syndrome (1866 ) - Also known as “TRISOMY 21” - Was named after John Langdon Down, hopefully described the syndrome Signs: 1. Flattened face 8. Broad, short hands with a single crease in the palm. 2. Small head 9. Relatively short fingers and small hands and feet 3. Short neck 4. Protruding tounge 5. Upward slanting eyelids 6. Unusually shaped or small ears 7. For muscle tone Edwards syndrome ( 1960 ) - Also known as “TRISOMY 18” - Was named after JOHN HILTON EDWARDS, hopefully discovered the case. Signs: 1. Low birth weight 2. Small head and jaw 3. An unusual looking face and head 4. Overlapping fingers and webbed toes 5. Problems with feeding, breathing, seeing and hearing Patau syndrome ( 1960 ) - Also known as “TRISOMY 13” - The chromosomal nature of the disease was asserting by Dr. Klaus Patau and Dr. Eeva Therman Signs: 1. Cleft lip and palate 2. An abnormally small eyes (Microphthalmia) 3. Absence of one or both eyes (Anophthalmia) 4. Reduced distance between the eyes (Hypotelorism) 5. Problems with the development of the nasal passages Klinefelter syndrome (1942) - Also known as “XXY SYNDROME “ - Named after Dr. Henry Klinefelter Signs: 1. A taller less muscular body than males their age. 2. Broader hips and longer legs. 3. Larger breast 4. Weaker bones 5. A lower energy level 6. Smaller penis and testicles 7. Delay in puberty or go a parcel amount 8. Less facial and body hair following puberty Jacobs Syndrome ( 1961 ) - Also known as “XYY SYNDROME “ - Often called as “SUPER MALE” - It was discovered by AVERY SANDBERG and named after PATRICIA ANN JACOBS Signs: 1. Hypotonia 2. Involuntary muscle movements 3. Taller than average height 4. Larger head dimensions 5. Low testosterone levels 6. Infertility Super Female Syndrome - Also known as “TRIPLE X SYNDROME “ - Discovered by American geneticist CALVIN BRIDGES Signs: 1. Delayed motor development 2. Low IQ 3. Delayed speech 4. ADHD 5. Abdominal pain

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