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Genetic Foundations
V: Genetic Foundations of Development
| Term | Definition |
|---|---|
| Chromosomes | hold the basic units of heredity (genes); 23 pairs |
| Genes | carry the plan for creating all traits carried, 20,000-25,000 |
| XX | female sex determination |
| XY | male sex determination |
| Dizygotic (DZ) Twins | two fertilized eggs, share about half of their genes (like other siblings) |
| Monozygotic (MZ) Twins | originate from the same zygote, share the same genotype |
| Genotype | set of genetic instructions for all physical and psychological characteristics |
| Dominant-Recessive Inheritance | genes that are dominant are always expressed but recessive genes are only expressed if paired with another recessive gene |
| Incomplete Dominance | a genetic inheritance pattern in which both genes jointly influence the character Ex.) AB blood |
| Polygenic Inheritance | most traits are a function of the interaction of many genes; characteristics are the result of the interaction among many genes Ex.) Height, personality, susceptibility to certain forms of cancer |
| Genomic Imprinting | genetic expression determined by whether it is inherited from the mother or father Ex.) Prader-Willi, Angelman Syndromes |
| Phenylketonuria (PKU) | Genetic disorder where someone cannot properly metabolize an amino acid, if untreated it results in intellectual disability, hyperactivity, treated by diet, 1/10,000-15,000 live births |
| Fragile X Syndrome | abnormality of the X chromosome, occurs more frequently in males |
| Sickle-Cell Anemia | sickling of red blood cells leads to inefficient distribution of oxygen throughout the body that leads to organ damage and respiratory infections, most frequent in those of African, Mediterranean, or Middle Eastern descent, 1/500 AAs, 1/20 AA carriers |
| Cystic Fibrosis (CF) | the body produces abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections, 1/2000 births, affects ~30,000 children and adults in the US, more than 100 mill. Americans are unknowing, symptomless carriers of CF. |
| Tay-Sachs Disease | accumulation of lipids in the nervous system=slowed mental and physical development, treatment=medication and diet, occurs in 1/3,600 descendants of Central and Eastern European Jews, 1/30 American Jews are a carrier, death likely by age 4 or 5 |
| Down Syndrome | extra copy of chromosome 21 (instead of 2 there's 3), most common genetic cause of intellectual disability, 1/1,500 |
| Klinefelter Syndrome | males are born with an extra X chromosome (XXY), affects men, 1/1,000 live male births, high-pitched voice, infertility, breast enlargement |
| XYY Syndrome (Jacob's Syndrome) | affects men, high levels of testosterone, tend to have severe acne and poor coordination in adolescence, prevalence unknown |
| Turner's Syndrome | occurs when a female is born with only one X chromosome. Girls show abnormal growth patterns, are infertile, adults have a short stature and webbed neck, 1/2500 live female births |
| Triple X Syndrome | occurs when a female is born with three X chromosomes, women tend to show an appearance within the norm; they tend to be about an inch or so taller than average, with unusually long legs and slender torsos, 1/1,000 live births |
| Amniocentesis | a sample of amniotic fluid that surrounds the fetus is extracted and tested, performed between the 12th and 16th week of pregnancy, small risk of miscarriage (1/200-300) |
| Ultrasound Sonography | high-frequency sound waves directed at the mother's abdomen provide clear images of the womb represented on a video monitor (echo transformed into picture), can be used to detect microencephaly and "see" the sex of the baby |
| Chorionic Villus Sampling (CVS) | small sample of the placenta is tested, used to provide info about birth defects (100% diagnostic success rate), higher risk of miscarriage than amniocentesis, slight risk of limb deformity |
| Noninvasive Prenatal Testing (NPT) | blood drawn from the mother, can diagnose several chromosomal abnormalities but cannot detect full range of abnormalities |
| Fetoscopy | a small camera is inserted through a small incision into the amniotic sac and can be used for further diagnostic testing and to perform procedures on the fetus during pregnancy |
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serenakellie
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