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28 Cards in this Set

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Gametes

*Ovum and sperm (sex cells)


*Meiosis

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

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

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

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





Male vs Female chromosome 23

Males carry XY


Females carry XX

Genetic vs Congenital

*Congenital: present at birth


*Genetic: genetic mutation

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

Penitrance

How strong is the trait or gene

Autosomal Dominant Disorders

1) Marfan Syndrome Disease


2) Neurofibromatosis

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

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

Autosomal Recessive Disorders

1) Phenylketonuria (PKU)


2) Tay-Sachs

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)

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

X-linked Disorders:

1) Fragile X Syndrome



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

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

Multifactorial Inheritance

No direct linkage


Ex: coronary artery disease, diabetes, hypertension, cancer, cleft lip/cleft palate, schizophrenia

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

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

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

Environmentally Influenced Disorders

Exposure during the first 60 days post conception have the most pronounced effect

Ultrasonography also known as:

Ultrasound


*visual exam of structure and funtion


*looking for structural abnormalities w/ sound waves

Alpha fetoprotein

*test for spinobifida (spinal column doesn't close)


*open neural tube or open ventral wall


*severely crippled

Amniocentesis

look for chromosomal defects

Chorionic Villus Sampling

genetic defects


*similar to amniocentesis


*draw fluid f/ umbilical cord

Percutaneous

*umbilical blood sampling