Lectures 6-10 CDE 430
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Date Created: 09/08/15
Genetics Fertilization amp Reproduction Key chroma chromosome cont continue chem chemical temp temporary avg average RARTIL Genetics Derived in 1906 amp de ned by Bateson as a science of heredityvariation amp the elucidation of these phenomenon o Heredity similarities among closely related indvs parentchild f siblings amp same species opposit 0 Variation dissimilarities among closely related indvs Mbst cells have speci c functions 0 Brains cels intelligence 0 Heart cels rhythm 0 Body cells 23 pairs of chromos 22 pairs of autosomesl pair of sex ch romos Identical DNA molecules 0 1 pair from mother1 pair from father Mitosis when body cells dividereproduce exact copies of each other 0 Sex cells Gametes Sex chromos XX for female XY for male Have 23 chromos TOTAL NOT pairs Ova plural Ovum singular egg cell 0 Remember 0 Meiosis quotOh myquot because 0 they contain 12 the number of o chromos o o Mitosis Miiiighty bigquot 0 because it can Largest cell in human body can be seen with naked eye size of a at end of sentence All woman39s ova are present at birth believed to b million at birth 400 will be released 400 periods between pubertyljmenopa use Smallest cell in human body w tail 12x longer than main part of cell it39s attached to Tail allows it to swim towards ova Sperm vs ova size small pin vs large grapefruit Men produce several billion sperm a month 200 300 million every day or so Produced from pubertyljdeath Meiosiscell divides in such a way that remaining cells have 23 chromos Sex cells divide w this NOT mitosis mitosis replicates meiosis dividesends w 23 chromos t0tagtlltgtllt Until 1956 scientists thought humans had 48 chromos in each cell like chimps but we have 46 Karyotype pictorial representation amp standard arrangement of chromos 0 To see if there are disordersto determine gender 0 Chromo color they can be dyed di colors 0 Y chromo is signi cantly smaller than X chromo 0 DNA is commonly referred to as the quotalphabet of lifequot Genes address along the chromos instructions for how we grow 0 Found in nucleus on long tiny bers called chromatin dif cult to see about 1 cell contains 4 inches of it There is enough chromatin in body to go to the sun and back 40 times 0 When a cell is getting ready to divide these bers contract into short tight coiled threads that are highly visible under microscope when dyed What We Learned from the Human Genome Project 2003 o 3 billion nucleotide bases in the human genome ACTG Avg gene contained 3000 bases largest recorded gene contained 24 million bases 0 Unknown what functions are for over 50 of discovered genes 0 Human genome sequence 999 the same in all people 0 Less genes than we thought 0 Was believed that we had 100000 genes in human genome but are actually 2000025000 genes Fertilization Ovum is protected by zona pellucida amp surrounded by corona radiata crownradiating A VgtCorona gtZona Ovum V c As soon as a sperm cell makes its way into the ovum the zona hardens amp doesn39t let anything else inside Sperm drops tail at midpiece amp pronuclei the head of spermnuceus of ovum come together to Vrm a ote nucleu 4 gt 4 0 Once the zygote is formed that is conception Germinal period zygote divides mitosis within 1215 hours of Sperm breaks at midpiece OUFQSQ on amp so forth to Comb39ne W39th Udeus a tightly packed cell called a morula it begins mun 0 Hll WlUl TIUIU 0 Cells cont to dividemove along the fallopian tubes traveling toward uterus becoming a blastocyst Will implant itself with ngerlike projections into uterus When that occurs Human Chorionic Gonadotropin HCG is release HCG hormone prego tests look for 0 Blood test accurate 7 days after conception o Urine test accurate 710 after conception o EPT test accurate 14 days after conception All cells will migrate to outside of cell amp create another area called primitive amnion a germ disc is recognizable soon after implantation gt Morula w uid that has migrated to outside of cell Primitive amnion Implantation occurs intensive chem change oc signal presence in uterus 0 Temp impairs mom39s immune system to prevent antibodies attacking the blastocyst as foreign matter 0 During 2nCI week blastocyst divides into 3 distinct layers Outer layer ectoderm skin hair sweat glands enamel salivary glands nervous tissue including brain Mesoderm mesomiddle muscles bone blood circulatory system teeth connective tissue kidney lnner layer endoderm endoin most of internal organs stomach intestines liver lungs heart etc 0 These layers are differentiated by 3rd week 0 the endometrium thru n blastocystmother39s tissues to How Does Sperm Make it to the Ovum At tip of sperm there is the acrosome contains enzymes that help move cells awayalow entrance into ovum Tail breaks off at midpiece head of sperm pronucleus so pronuclues can combine with ovum nucleus o 72 hours after fertilization zona falls away amp ovum cont to enter uterine cavity in 6072 hours 0 8 days implantation 0 Can implant anywhere If it implants in fallopian tube tubalatooic preonancv not in uterus amp requires abdominal surgery to delivery baby Abdominal implantation occurs when zona is lost too early results in premature implantation Twins DZ Dizygotic o Di2 zygoticzygotes 0 Double ovulationdouble fertilization Frequently occur bc in IVF 1 egg is fertilized amp 1 zygote is implanted in uterus w hope that at least 1 will take MZ Monozygotic o Mono1 twins from ONE zygote o The morula divides into essentially 2 morulas amp they m Cont to develop PART 2 Choosing Sex of Baby Beliefs Throughout History Greeks o Believed quotAll good things come from the rightquot 0 Believed boys gt girls 0 Men tie up left testicle during intercourse only the quotgoodquot aka right Hippocrates f sperm would be used after ejaculation taught these 0 Women lie on right side during intercourse so sperm goes to right 2 beliefs ovary J rly 20th century 0 Right ovary boys Left ovary girls 0 Was believed that one could track whether a boygirl was to be conceived bc the ovaries alternated month to month Amount of passion could determine gender 0 Weather Boy have sex during full moon w north wind have sex at night have sex on odd dayshave deeper penetrationeat salty foods Gir opposite of all thatquotquot eat dairy products have sex earlier in cycle place wooden spoon under bed w pink ribbon under pillow O 0 Today 0 Boy douche w baking sodawater before 1st day ovulation 0 Girl douche w vinegarwater have sex 23 days before ovulation Said that vinegar increased acidity creating inhospitable env39t for Y chromo amp baking soda did opposite better survival for Y chromo Remember toothpastebaking soday boys amp salad dressingvinegargirs o Other beliefs say to do the douching practices BUT for a boy have sex 3 days from time of ovulation and for girl have sex at ovulation Mechanisms of Heredity 1 Single gene pair a Some characteristics are in uences by only one pair of genes 1 from mom1 from dad i Gregor Mendel found this thru experiments on peas amp discovered alleles ii Alleles 2 alternate forms of genes 1 Behave in a pattern of dominancerecessiveness 2 Dominance provides instructions iii If both alleles are the same child is homozygous samezygote for that trait iv If alleles are diff child is heterozygous for that triat b Genotype actual instructions in the genes c Phenotype what is expressedseen i Ex Huntington s disease doesn t show until age 35 Adult onset diabetes d Punnett Square visual on dominantrecessive genes Incomplete Dominancr B FATHER Ex Sickle Cell 39 MOTHE o E D ndv to experience Jomt die by adolescence zygous genes for sickle cell swelling 0 o 9 of Afric disease Can pass it to children Sickle cell disease is recessive ss 0 If indv is heterozygous for sickle cell disease it doesn39t mask all symptoms of it CoDominance Ex Blood type 0 A amp B dominant over 0 but A amp B can39t overpower each other Blood type AB codominance o 0 blood type means there are no antigens Mechanisms of Heredity cont 2 Sex Linked Inheritance a In uenced by single genes located on the sex chromos the 23rd pair rather than on the other chromos autosomes b Vast majority of these attributes are produced by genes located only on the X chromo Xlinked traits including colorblindness hemophilia Duchene type Muscular Dystrophy certain types of deafness night blindness i Colorblindness recessive on the X chromo ii If a boy is born with the recessive gene on their X chromo they will be colorblind since the Y chromo doesn39t have a dominant gene to promote color vision 3 Polygenic Inheritance a Most important characteristics are in uenced by multiple genes i Ex intelliegence amp temperament 1 We should expect a range of these traits in the population w an avg below avg and above avg b Mutation i Change in structure or arrangement of 1 genes that produces a new phenotype ii It is believed that hemophilia was a mutation passed on by Queen Victoria iii Can be spontaneous or genetic 1 New cases can be onset by env39tal hazards toxic waste radiation agricultural chem in food a Natural selection can make a mutation bene cial i Ex those with sickle cell disease could not get malaria in Africa c Multifactorial i Most genes require genesenv39t together to in uence a characteristic 1 Ex height intelligence diabetes How Does That Promote Developmental Change 1 Waddington39s Canalization Principle a Highly canalized traits traits less in uenced by env39t i Ex all babies walk babble etc making it highly genetically determined b Less canalized traits traits that are in uenced by env39tcan take multiple pathways i Ex intelligence temperament personality ii Believed it is most determined in early years of life before age 2 bc babies reach intellectual milestones before 2 years old c Shows that i Multiple pathways along which an indv might develop ii Naturenurture combine to determine these pathways iii Genes may limit the extent to which env39ts can in uence devt 2 Gottesman s Range of Reaction Principle a Genotype sets limits on the range of possible phenotypes in other words the genotype sets the range for possible outcomes for an attributethe env39t determines where the indv will fall within range i Ex intelligence 1 Some people have 8 oz glasses mugs or shot glasses of intelligence If the shot glass is full to the brim they may have more intelligence than the indv with an 8 02 glass bc the glass may not be full Genetic amp Chromosomal Abnormalities Key env t environment dev t development indv individual avg average chroma chromosome Leading Causes of Congenital Anomalies 50 unknown 2025 multifactorial inheritance 67 chromosomal abnormalities 78 mutant genes 710 env39tal agents Genetic amp Chromosomal Abnormalities Important to remember 0 Only small percentage of babies are born w any kind of major inherited birth defect 5 chromosomal abnormality 12 genetic defect 0 Many abnormalities of chromos or genes result in spontaneous abortion miscarriage Probably don39t have many children born w chromosomal defects bc of spontaneous abortion of fetus Estimated to run as high as 4060 large of these miscarried babies have chromo abnormalities 0 Various causes Transmitted thru generations accidents during meiosis conception prenatal dev39t 0 Many inherited abnormalities don39t seriously affect lives of the indvs Ex colorblindness Genetic Disorder 0 Genetic disorder Disorders on genes 0 Usually found on autosomes 0 Usually recessive o Varies with ethnic and racial background lntermarriage win same racial background increases intermission of gene disorders 0 Examples 0 TaySachs Inherited nervous system is gradually destroyed death by 46 years old common in Jewish people effects 125000 people in US 0 Phenylketonuria PKU Autosomal recessive inability to produce enzymes to digest phenyl At risk for severe mental retardation hyperactivity motor disturbances Effects 110000 births of northern European descent Can change it thru diet controlled diet can help w IQ o Cystic Fibrosis Autosomal recessive Found in 13700 people 0 Most common in Caucasians Appears in infantsearly childhood Mucous built up in respiratory systemmalfunction of sweat glands Susceptible to upper respiratory infections 0 Need to keep lungs clear 0 12030 people carriers of recessive X chromo traits Chromosomal Disorders Chromo disorders abnormality w chromos extralacking chromo 0 Ex extra chromo on 21St pair Trisomy 21 Trisomy 21 Down Syndrome 0 Leading congenital cause of mental retardation in US 0 Flat face slanting eyes fold in eyelid heart disorders 0 quotMongolismquot bc people think they look Asian 0 Pleasant affectionate disposition though infants may be irritabledif cult Simian Crease on palm of hand 0 Maternal age is linked to babies w Down Syndrome gt30 11500 3034 1750 3539 1300 40 1100 45 125 But 75 of all DS infants born in US each year are to women gt35 years usually the ones having more children overall 0 Aging ova hypothesis Ova are formed once during prenatal dev39t So a 45 year old woman has old ova that may degeneratebecome abnormal Older women have been exposed to more env39tal hazards Older women less effective at rejecting abnormal fetuses However 25 of children w Down Syndrome as a result of father39s chromos Turner39s Syndrome XO 0 Occurs when there is only 1 X chromo not a pair 0 O O O Phenotypically female Short webbed necks sterile underdeveloped secondary sex characteristics dif culty w spatial tasks such as reading a map Taking extra estrogen helps physical dev39t in these females Found in 18000 women Klinefelter39s Syndrome XXY O O O Occurs when there is XXY for the 23rd chromo quotpairquot There can be more than 2 X5 as well Phenotypically male w some female secondary characteristics Look more male than female but could have broader hipsbreasts at puberty The more X s the more severe the problem Risk increases w maternal age Smaller genitalia little facialpubic hair sterile some breast dev39t mental retardation more prevalent 75 are of normal intelligence though less active less assertive more prone to stress In the past eastern Europe males w XXY may have competed as females in athletic events leading to the practice of sex tests for Olympic competition Found in 12000 men Supermale Syndrome XYY O 0 Usually tall below avg borderlinele Once associated w increased aggression Believed that the extra Y predisposed them to aggression Careful research indicates that incidence of aggression of incarcerated men w XYY is not disproportionately greater than the general population casting doubt on the hypothesis that criminality is linked to Y chromo XXY incarcerated men are not any more violent than XY men Found in 12000 men Research on this stopped bc of fear of discovering that Y chromo aggression there was less anonymity for those with XYY bc of media coverage Many XXY males ended up in prison bc of deprived social situations Superfemale Syndrome XXX PolyX Syndrome 0 Characteristics vary Some women are normafertie Others are sterie mental retardation Phenotypically female normal in appearance Found in 11000 women Fragile X Chromosome 0 O O O X chromo is fragile towards tipamp it breaks off easily Usually XY sexlinked 2nCI most common cause of retardation in males 75 of males with Fragile X will have mild mental retardation Linked to infantile autism 0 Found in 12000 people 0 Prominent elongated ears long face Which disorder is attributable solely to one parent Supermale Syndrome XYYD only men can contribute the extra Y chromo Don t forget the human factor Genetic Counseling amp Testing Key prob probem en v t environment dev t development combo combination Genetic Counseling Who should receive genetic counseling preconceptual counseling Ideally everyone But it is most strongly recommended for 0 Those who already have a child w genetic disease 0 Those who have relative w genetic probs 0 Those who come from same genetic stock iefirst cousins or whose ancestors come from regions where certain genetic probs are common It39s legal in AZ as long as your rst cousin is over 65 years old 0 Those who have had previous pregnancies that ended in spontaneous abortion miscarriages remember that many miscarriages may result bc of geneticchromo probs 0 Those who have history of infertility Perhaps they are losing baby to miscarriage wo knowing it 0 Those in which the woman is over 34man is over 44 How do They do Genetic Counseling 1 Evaluate family background genetic testing 2 Determine probability a couple will have a child w genetic prob 3 If probabilityhigh there are several options a Remain childless b Adoption c Obtain prenatal diagnosis and choose i Abortion ii Postnatal treatment Prenatal Testing Amniocentesis 0 Doctor samples amniotic uid w needle 0 Only performed after 10th week of pregnancy usually between 16th18th week Early amniocentesis is associated w fetal loss amp club foot 0 Children has increased risk of ear infectionmiddle ear abnormalities if mothers had amniocentesis o The cells taken from mom needs to be culturedstimulated to grow can take up to 2 weeks offered to women 35 0 Risk of miscarriage is 1200 from this procedure Equal to risk of having child w down syndrome FOR REVIEW Screening test might be a problem oDiagnostic Chorionic Villus Sampling 0 Can be done earlier in pregnancy and results will come up faster 0 O O O O O O O O O O O O If you choose abortion if test is positive for a geneticchromo abnormality it will be easier on your body Around 16 weeks people start feeling baby moveamp that can create attachment to baby making abortion decision more dif cult Sample of chorion is taken outer membrane of amniotic sac consists of same genetic material as baby CVS is done at 1011 weeks transabdominally or transcervically 13 can result in miscarriage Better to have a doctor that has done at least 30 of these procedures bc they will have the experience needed to be more ef cient at it Percutaneous Umbilical Blood Sampling PUBS Similar to amniocentesis Draws blood sample from umbilical vein of umbilical cord Rapid karyotype baby in distress Manage Rh factor problems lf baby is suspected to be anemic this is the way to con rm it Alphafetoprotein screening Blood is drawn from mother ampif AFP is found in the mother39s blood it is often a sign of a neural tube defect Ex Spina bi da Found in 11000 pregnancies most common among birth defects Has a high falsepositive up to 25 lf test is positive physician will follow up to con rm if there actually is a problem TripleQuadPenta Tests Includes Alpha test Triple is most accurate during 1618 weeks gestation Can be done during 1522 weeks 85240 fairly cheap Generally speaking any combo of testing will identity 65 of babies w down syndrome 8090 w neural tube defects False positives might relate to not knowing gestational age maternal weight maternal age amp diabetes Likely to consist in followup tests Ultrasound for follow up can detect down syndrome Every positive screening will cost 106000 90 of these babies won39t have any problems at all 0 Ultrasound 0 Ultrasound provides picture of baby w high frequency sound waves No known risks to babies Recommended that mothers have less ultrasounds than before bc of cost 0 Can reveal problems w growth tell gender of child w fair degree of accuracy 0 3D ultra sound done by using multiple ultrasounds at one time Genetics amp Social Issues 0 Genetic info is 0 Personal It is possible that you could give your tissue to be tested for something amp it could be sold for research they would make money off your tissue wo you knowing it ls genetic privacy diff than medical privacy It39s a fuzzy line 0 Powerful Psychologically can change mindset towards life of person 0 Potentially predictive You could carry the gene for breast cancer but it may never show itself 0 The vast majority of women with breast cancer don39t carry the gene It may show signs of something but doesn39t guarantee that it will be prevalent o Pedigreesensitive 0 Permanent Once it39s out there it s out there 0 Prejudicial Where do we draw the line between medical treatment and medical enhancement Are GMOs safe for usenv39t Just bc we can do something doesn39t mean we should do it Food for Infertility All couples in the US 110 couples will be infertile Age 3034 17 couples Age 3539 15 couples Age 4044 14 couples 0 A couple is considered infertile if they are unable to conceive after 1 year of intercourse without contraception 0 Factors contributing to infertilitydecreasing of babies for adoption legalized abortion single parenthood STD etc Infertility Primary conception has never taken place 0 Secondary there has been at least one previous conception amp now the person is having probs conceiving Sterility the ideology of infertility is established amp there is no possibility of conceonn o lnfertile may conceive o Sterile can39t conceive Prime Causes of Infertility 21 l sperm problem 18 l ovulatory failure 14 D tubal damage 9 D endometriosiscervical mucous 5 D coital problems 5 D other 28 D unexplained STDs Recommended that all women get screened if 25ampunder if sexually active for STDs If you want to have a child take care of your sexual health Chlamydia amp gonorrhea most important preventable cause of infertility 0 Can cause Pelvic In ammatory Disease PID PID can lead to infertility amp ectopic pregnancy 0 Women are symptom free 0 All sexually active women under 26 should be screened ANNUALLY over 25 if multiple partners or new partner How it s Found 0 Complete historyampphysica 0 Most info can be given if both partners are there initially for testing It39s easier for a man to be tested than for a woman to be tested Frequencytiming of intercourse Use of lubricants Complete menstrual history Overcoming Infertility 5ide note for people trying to conceive it can be painful constanty questioned It can be very hard emotionaly Fertility Folklore o Cerne Valley Giant have sex next to the giant to get fertile but now it is banned o Lch charms kokopeli crawling under a special arched stone 0 3 billionyear is spent on fertility treatment 0 Surgery adoption traditional procedures Assisted reproduction lntrauterine insemination o Sperm is provided by partnerdonor near time of ovulation It is deposited into uterus 0 8000 US children are conceived this way In Vitro Fertilization lVF Louise Brown was conceived in a petri dish rst ever lVF baby 0 You obtain egg from ovary fertilize with sperm in culture dishthen it s transferred to woman39s uterus Most common form of assisted reproduction Accounts for 98 of all reproduction techniques in US 0 NF babies are 40 more likely to have birth defects cleft palates heart problems spina bi da 0 NF babies showed 2540 greater risk of abnormalities but is unknown as to why 0 About 3 of babies conceived naturally will have birth defects Gamete lntrafalopian Transfer GIFT Success rate is higher than lVF probably because it is developed in natural env39t of the fallopian tube lntra Cytoplasmic Sperm Injection ICSI Sperm is placed into egg using a ne piette usually used when there is poor sperm 0 Higher rates of certain birth defects Affected 86 of lCSl babies compared to 69 of naturally conceived babies 0 Heart internal urinary genital defects Embryo Transfer 0 When both in a couple are infertile you can take spermampovum from someone elsefertilize eggl transfer it to woman o Is rare has a low success rate Surrogate mothers 0 What about ethics What happens if you father was a sperm donor What if you were carried in your grandmother s womb What happens to the relationships in these cases