genetic disorders caused by: ~ _________________________ ________________________ or ~...
DESCRIPTION
________ & _________ - Substance that can cause a mutation - Ex - -UV Light -X-Rays -Radiation -Viruses -Tobacco 1- _______________ Mutation- reproductive cells (sperm & egg) 2- __________ Mutation- body cells (types of Cancer)TRANSCRIPT
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Genetic disordersGenetic disordersCaused by:Caused by:
~ _________________________ ~ _________________________ ________________________________________________
OrOr~ _________________________ ~ _________________________
__________________________________________________
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Altered ChromosomesAltered Chromosomes ## can change due to _________________ can change due to _________________
____________________________________________________________________
structurestructure can change _______________ can change _______________ __________________________________ __________________________________ ____________________________________________________________________
( Remember: chromosomes are DNA ( Remember: chromosomes are DNA wrapped around histones. When the wrapped around histones. When the DNA is altered the structure changes)DNA is altered the structure changes)
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________________ && __________________
- Substance that can Substance that can cause a mutationcause a mutation- ExEx--
- UV LightUV Light- X-RaysX-Rays- RadiationRadiation- VirusesViruses- TobaccoTobacco
1-1- _______________ _______________ Mutation-Mutation- reproductive cells reproductive cells (sperm & egg)(sperm & egg)
2-2- __________ __________ Mutation-Mutation- body cells body cells (types of Cancer)(types of Cancer)
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Types of Types of structural structural MutationsMutations1- 1- ________________-________________-
piece of chromosome piece of chromosome is lostis lost(Cri-du-Chat or Prader-(Cri-du-Chat or Prader-Willi Syndrome)Willi Syndrome)
2- 2- ____________________________________- - piece breaks off & piece breaks off & reattaches upside reattaches upside downdown
3- 3- ___________________-___________________- piece breaks off and piece breaks off and attaches to a different attaches to a different chromosomechromosome
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4- 4- ____________________-____________________- removal of a single removal of a single DNA DNA nucleotidenucleotide(one nitrogen base is substituted with (one nitrogen base is substituted with another)another)Example-Example-** ** OriginalOriginal - The fat - The fat ccat ate the wee rat.at ate the wee rat.** ** Point MutationPoint Mutation - The fat - The fat hhat ate the wee at ate the wee
rat.rat.
Carcinogen-Carcinogen- mutation that may cause cancer mutation that may cause cancer
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Cri du Chat Syndrome: Cri du Chat Syndrome: ______________________
CharacteristicsCharacteristics- High pitched - High pitched mewing cry as an mewing cry as an infantinfant- Slant of the eyes- Slant of the eyes- Mental - Mental retardationretardation- _________________ - _________________ __________________ __________________ ____________________________________
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Prader –Willi Syndrome: Prader –Willi Syndrome: __________________________CharacteristicsCharacteristics
- Infants are weak- - Infants are weak- sucking reflex is poor & sucking reflex is poor & feeding is difficultfeeding is difficult
- _______________________ - _______________________ ____________________________________________
- Children become - Children become extremely obeseextremely obese
- ____________________________________________- Short statureShort stature- Poor sexual - Poor sexual
developmentdevelopment- Behavioral issues- Behavioral issues
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Changes in the Changes in the Chromosome NumberChromosome Number
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______________________________________________-- chromosomes chromosomes fail to separate fail to separate during Meiosis; will cause during Meiosis; will cause a lack of a chromosomes or will give you an a lack of a chromosomes or will give you an extra chromosomeextra chromosome
2 Types2 Types1- 1- ______________________________-- lack a lack a
chromosomechromosome__________________________________________________________________
- _______ chromosomes = - _______ chromosomes = XOXO-________________________-________________________- webbed neck- webbed neck - short- short- swelling at wrists & ankles- swelling at wrists & ankles- ______________________________- ______________________________
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-- 2. 2. TrisomyTrisomy-- ___________________________ ___________________________- ex: - ex: ____________________________________(Trisomy 21)-(Trisomy 21)- males males
& females, decreased muscle tone, slanting & females, decreased muscle tone, slanting eyes, small mouth with protruding tongue, eyes, small mouth with protruding tongue, mental retardationmental retardation
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Types of NondisjunctionTypes of NondisjunctionKlinefelter’s SyndromeKlinefelter’s Syndrome
((____________________________________________)- _____________________, tall )- _____________________, tall (long legs with short trunk), infertile, low IQ, (long legs with short trunk), infertile, low IQ, enlarged breast tissue (a type of Trisomy)enlarged breast tissue (a type of Trisomy)
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Detecting Human Genetic Detecting Human Genetic DisordersDisorders
Genetic screening-Genetic screening- examine a person’s examine a person’s genetic make-upgenetic make-up(Karyotype, Blood tests)(Karyotype, Blood tests)
2 methods:2 methods:1- 1- ____________________- ____________________-
amniotic fluid withdrawalamniotic fluid withdrawal2- 2- ____________________ ____________________
(CVS)-(CVS)- take a sample of take a sample of villi (_____________________ villi (_____________________ _____________________)_____________________)
**Both produce **Both produce Karyotype**Karyotype**
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Detecting Human Genetic Detecting Human Genetic DisordersDisorders
Advantage of bothAdvantage of both: - Physicians can : - Physicians can detect more than detect more than __________________________________________________________________
Disadvantage of AmniocentesisDisadvantage of Amniocentesis: most : most conditions are incurable and the results conditions are incurable and the results ____________________________________ ____________________________________ (abortion at this time is very difficult)(abortion at this time is very difficult)
Disadvantage of CVS:Disadvantage of CVS: __________________ __________________ ________________________or miscarriage but ________________________or miscarriage but it comes back b/4 1it comes back b/4 1stst trimester is over trimester is over
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Genetic Traits & Genetic Traits & DisordersDisordersGenetic Disorder-Genetic Disorder- disease disease
or set of conditions that or set of conditions that have a genetic basis.have a genetic basis.
1- 1- Single Allele Trait-Single Allele Trait- 1 1 allele controls the traitallele controls the trait
A) A) ____________________: ____________________: Ex: Huntington’s disease, Ex: Huntington’s disease,
Achondroplasia Achondroplasia (dwarfism), Cataracts, (dwarfism), Cataracts, Polydactyl)Polydactyl)
B) B) __________________________________________: : Ex: albinism, cystic fibrosis, Ex: albinism, cystic fibrosis,
sickle cell anemia, PKU, sickle cell anemia, PKU, MarfanMarfan
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Genetic Traits & Genetic Traits & DisordersDisorders2.- 2.- ______________________ ______________________ 3 3 or more alleles of the same or more alleles of the same gene code for a single traitgene code for a single traitEx- Blood Groups (A, B, O)Ex- Blood Groups (A, B, O)
3- 3- ______________________-______________________- traits that are controlled by traits that are controlled by many genes (Skin, Hair & many genes (Skin, Hair & Eye color, Height, Foot Eye color, Height, Foot size)size)
4- 4- ______________________-______________________- phenotype depends on phenotype depends on gender and hormones gender and hormones (Baldness)(Baldness)
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Genetic Traits & Genetic Traits & DisordersDisorders
5- 5- ____________________________________-- found only one the found only one the X Chromosome X Chromosome
Examples-Examples-Colorblindness, Colorblindness, Fragile- X, Fragile- X, Hemophilia, Hemophilia, Muscular Muscular Dystrophy, Dystrophy, Ichthyosis simplex Ichthyosis simplex (Scaly skin)(Scaly skin)
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Heterozygous advantageHeterozygous advantageMalaria and sickle Malaria and sickle
cell anemiacell anemia ______________________________ ______________________________ ______________________________ ______________________________ ______________________________