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BU PSYC 220 - Examples of Human Inherited Diseases

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PSYC 22 1st Edition Lecture 4OUTLINE OF LAST LECTURE:- Experimental Designs (continued from Lecture 2)- Studying development: observation & interviewo Case Studies- Ethical Issues- Rights of Research Participants- Start of CH2: Biological & Environmental Foundationso Genetics: Terms you should knowOUTLINE OF CURRENT LECTURE:- (Continuation of last lecture)- range of reaction- Examples of Human Inherited Diseaseso Dominant & recessive- Chromosome Abnormalities- Practice questions- Pregnant diagnostic techniquesCURRENT LECTURE:CH2: Biological & Environmental FoundationsGENETICSTerms you should know:- DNA- GENES- CHROMOSOMES: 46 totalo Half from mom (23) , half from dad (23)o 22 pairs: autosomeso 1 pair: sex chromosomeso XX=femaleo XY=male- Mitosis vs Meiosis:o Meiosis: form eggs & sperm: reduction division Eggs: develop prenatally in-utero Sperm: not in-utero o Egg + sperm = zygoteThese notes represent a detailed interpretation of the professor’s lecture. GradeBuddy is best used as a supplement to your own notes, not as a substitute.o Mitosis: splitting of cells; constantly Ex: if you cut your knuckle on the ice, your body will use mitosis to fix itself- Homozygous: if you get the same version of the gene from mom&dad- Heterozygouso Different version from mother, different from father Ex: hair color, eye color, genetic disorder (cystic fibrosis), etc. - Dominant: only need 1 copy (either from mom or dad): will be expressedo Ex: curly hair & blue eye genes are dominant- Recessive: need 2 copies for it to be expressed.o If you have a dominant & recessive gene: the recessive will be masked. - Genotype vs phenotypeo Ex: curly hair, straight hairo Possible genotypes: CC (curly hair gene from mom & dad), Cc (curly hair gene from one parent, straight hair gene from the other), cc (both straight hair genes: 2 recessive = you will have straight hair.) (Dominant gene: CAPS, recessive=lower case)o Phenotypes you display: CC, Cc = curly cc= straighto Phenotype: the trait you SEEo Genotype: the gene you actually have CC, Cc = curly genes Curly hair is the displayed phenotype - (2/5) Range of reactiono Genetic psychological traits: wide range of reactions (environment has a broad influence)o Eye color: environment cannot influence it. Range of reaction: minimal o Height: 6-12 genes that influence height. *compared to eye color it is very influencedby environment Houses in the 1800s had lower ceilings -> shorter people. - Diet didn’t consist of enough protein Today our ceilings are higher -> taller people- Canalized trait: “robustness”, trait that is not influenced by environmento Ex: height, IQ vs eye color Examples of Human Inherited Diseases- DOMINANTLY Inherited Diseases (only need 1 gene from other mom or dad)o Huntington’s disease: fatal degenerative brain disorder that shows symptoms of cross-development. Physical changes (balance problems, motor problems), cognitiveloss, depression. Brain change becomes so severe -> death Born with it but symptoms appear early-mid adulthood: “learned” disease (you’re not aware that you have it until the symptoms develop)o Neurofibromatosis: not fatal. Debilitating. Dominantly inherited disorder. Tumors(face, arms, skin)Autosomal Dominant Inheritance - RECESSIVELY inherited diseaseso Cystic fibrosis: life-shortening disease (avg~40year life span). Thick-sticky mucus builds up in digestive system & lungs -> respiratory infection, lack of oxygen. If both parents are carriers: 25% offspring will have ito Sickle cell anemia: affects 90,000 Americans. Common in African Americans. ¾ world cases in Africa. Life shortening in most places in the world (generally U.S.A: sickle-cell anemia patients live into their 70s because of immediate care measures) Under stress: cells form a sickle shape and clog the tiny blood vessels. If they clog a critical blood vessel meant to travel to your lungs, heart, brain: lethal. S s S s o PKU: nervous system damage. Adjusting diet -> prevent brain damageo Tay-Sachs: nervous system disorder. Central nervous system degenerates. When reading the toddler age -> fatal -> death. Affects jewish population - Can get screening tests for these diseases to see if you’re a carrier but they’re not free so not as many people get screened. Only if their family member has it they go to get tested- Human X-linked Inherited Diseaseso Color blindness (some forms). (box chart: Xc= color blindness gene)o Hemophilia: X-linkedo Severe Combined Immune Deficiency: no defensive immune system SS: normal Ss: carrier like parent. (prone to malaria)Ss: carrier like parent (prone to malaria)ss: have sickle cell. (recessive disease, recessive genes)X X Xc YQ: John’s mother had Huntington’s disease (Dominant disease). Her mother had it but her father didnot. John’s father did not have Huntington’s. = HER MOTHER had it, father didn’t - What are John’s chances of having Huntington’s? 50%- What are his sister’s chances?h h HXcX XcXXY XYhQ: Bill is a carrier for cystic fibrosis (Recessive gene), his wife is not a carrier nor does she have cystic fibrosis- What are their chance of having a child who is a carrier? 50%- Who has CF? 0%Because one parent does not have it at all.C CC cHh Hhhh hhCC CCCc CcQ: Lisa’s father was red/green color blind but Lisa is not! Her husband Dave is not color-blind. *Lisa is a carrier Xc- What are their chances of having a color blind daughter? 0%- What are their chances of having a daughter who is a carrier? 25%- A son who is color-blind? 25%Xc X X YQ: Lisa is pregnant; amniocentesis shows that the fetus is aboy- What are the chances he will be a carrier for color-blindness? 0%o BOYS CANNOT CARRY RECESSIVE SEX-LINKED GENES- What are the chances he will be color-blind?- What are the chances he will have normal color vision?---Genetics continued---- Imprinting: one copy of the gene is ‘silenced’/turned off in either the egg/sperm. Only the maternal or only paternal inheritance is expressed.o Ex: ligers: enormous. Growth keeps going, it’s not regulated because the growth gene from the paternal inheritance.- Polygenic Inheritance:- Fragile X Syndrome: “broken” segment in the X chromosomeo Tends to be more of an issue with males Results in learning disabilities, mental retardation, severe cognitive deficits  Long narrow faces  Significant %


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