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28 Cards in this Set
- Front
- Back
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Gametes |
*Ovum and sperm (sex cells) *Meiosis |
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DNA |
*Most lives in nucleus *All cells carry the info f/ the gametes *DNA has to be duplicated and split b4 mitosis *Looks like a twisted ladder |
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RNA |
*Lives in cytoplasm *Carries the needed amino acids to build proteins *Carries the directions on assembly *Provides the machinery and location for the work to be done |
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Genes |
*The same in every cell (23,000) *Not all are active or expressed in all cells *Mutations occur during duplication *The effect of the mutation depends on when the mutation occurs |
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Chromosomes |
*Store the genetic info created by DNA and RNA *Arranged in pairs ( one f/ mom and dad in every cell) *Have specific structure * 1 pair sex chromosome +22 pairs are autosomal ___________________________ 23 Pairs |
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Male vs Female chromosome 23 |
Males carry XY Females carry XX |
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Genetic vs Congenital |
*Congenital: present at birth *Genetic: genetic mutation |
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X-linked Disorders |
*carried on the X chromosome *usually doesn't show up in girls b/c she has an extra good X to balance *Fathers pass the defective gene to all of their daughters and none of their sons *Mothers have a 1 in 2 chance of producing affect male offspring and a 1 in 2 chance of producing a carrier female |
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Penitrance |
How strong is the trait or gene |
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Autosomal Dominant Disorders |
1) Marfan Syndrome Disease 2) Neurofibromatosis |
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Marfan Syndrome Disease |
*Autosomal Dominant *disease of the skeleton, eyes, and cardiovascular system *Skeleton: exaggerated length and thin extremities; chest-Pectus excavatum *Eyes: bilateral dislocation of the lens; myopia (nearsightedness); tendency to retinal detachment *Cardiac: vascular abnormalities; rupture of the aorta Ex: Michael Phelps- Olympic swimmer |
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Neurofibrmatosis |
*Autosomal Dominant *Tumors (not cancerous) on nerve tissue *Dark pigmented lesion of skin and eyes *Tumors on acoustic (ear) nerve *Growth and symptoms are made worse by pregnancy and oral contraceptives |
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Autosomal Recessive Disorders |
1) Phenylketonuria (PKU) 2) Tay-Sachs |
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Phenylketonuria (PKU) |
*Autosomal Recessive *patients are missing one enzyme that degrades phenylalanine to a non toxic form *causes mental retardation, microcephaly, delayed speech *all babies have a blood heel stick test before hospital discharge to check for the enzyme *if lacking the enzyme, need dietary modifications ( phenylalanine-free diet) |
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Tay-Sachs Disease |
*Autosomal Recessive *enzyme to metabolize fat is missing, so brain turns into fat *accumulation of lipids in neurological tissue *displacement of neurological tissue *appear normal first few months of life *neurological deficits appear-blind, deaf, paralysis, dysphagia (difficulty swallowing) *death near age 4 *High risk in Jewish population |
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X-linked Disorders: |
1) Fragile X Syndrome |
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Chromosomal Disorder |
*Result during meiosis (bc of sex chromosome and sex gametes do meiosis) *Chromosome does not split correctly *Most frequently-abnormal numbers of chromosomes |
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Fragile X Syndrome |
*part of the X is fragile *mental retardation-slight or gross *long face w/ large mandible *macroorchidism (large testicles) *everted ears *mitral valve prolapse *hyper extensible joints *most common in males |
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Multifactorial Inheritance |
No direct linkage Ex: coronary artery disease, diabetes, hypertension, cancer, cleft lip/cleft palate, schizophrenia |
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Trisomy 21 also known as: |
Down's Syndrome The most common chromosomal disorder *risk increases as maternal age increases *features: *square head *upward slant of the eyes *malformed, low set ears *fat pad @ back of neck *open mouth *protruding tongue |
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Turner Syndrome also known as |
MonosomyX *short statue *webbed neck *puffy hands and feet at birth *coarctation of the aorta *no puberty, no ovaries, sterile *common in females *abnormal kidney, heart |
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Klinefelters Syndrome also known as: |
Polysomy X *extra X chromosome *males develop some female secondary sex characteristics *breasts *lack of facial and chest hair *statue (short torso, long extremeties) *high pitched voice |
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Environmentally Influenced Disorders |
Exposure during the first 60 days post conception have the most pronounced effect |
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Ultrasonography also known as: |
Ultrasound *visual exam of structure and funtion *looking for structural abnormalities w/ sound waves |
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Alpha fetoprotein |
*test for spinobifida (spinal column doesn't close) *open neural tube or open ventral wall *severely crippled |
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Amniocentesis |
look for chromosomal defects |
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Chorionic Villus Sampling |
genetic defects *similar to amniocentesis *draw fluid f/ umbilical cord |
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Percutaneous |
*umbilical blood sampling |
