Biological and Environmental Foundations Genetic Foundations Phenotypes- observable characteristics Genotypes- genetic information that determines our characteristics Chromosomes- within the nucleus of the cell are rodlike structures that store and transmit genetic information. Chromosomes come in 23 matching pairs (except sex chromosomes, which are X and Y) DNA- chemical substances that make up chromosomes- the double helix structure Genes- a segment of DNA on the chromosome. We share 98% of our DNA with chimps- so that little extra bit is responsible for our upright gait and language and cognitive abilities. Karyotype is a photograph of human chromosomes. Mitosis is the process of duplication of the normal cells, producing exact copies. The Sex Cells Gametes are the sex cell, sperm and ovum. Each contains 23 chromosomes, so that when they combine to form a new person, the fertilized egg will have 23 pairs of chromosomes. Meiosis is the process of forming gametes with 23 chromosomes. Zygote is produced by sperm and ovum uniting in fertilization. Autosomes are matching pairs of chromosomes- 22 pairs. Sex chromosomes are the 23rd pair, either XX for a female or XY for a male. Multiple births relates to family history of twins, older maternal age, normal build women and later births or use of fertility drugs. Fraternal/ dizygotic twins are most common twin, produced by fertilization of 2 ova by 2 sperm. These twins are no more alike than any siblings. Identical/ monozygotic twins occur when a fertilized zygote separates into 2 clusters of cells that become 2 individuals. 3/ 1,000 births. Genetic inheritance Homozygous inheritance results when a pair of autosomes match, so the child reflects the similar gene characteristic. Heterozygous inheritance occurs when the genes for a trait are not the same- so the relationship between the 2 determines which trait will be displayed. Dominant-recessive inheritance determines what traits are displayed. The dominant gene will be displayed, while the recessive trait will go underground, held in the genetic matrix. Carriers have a recessive gene that can be passed to a child and be displayed in a later generation. o Phenyketonuria is a defect in processing proteins and is the product of recessive genes. Because all children are tested for PKU disease and the disease can be controlled by a low protein diet, these children can escape brain damage and mental retardation. o Huntington disease (nervous system degeneration) is carried on a dominant gene and most diseases like that are so serious that the child doesn’t live to pass the disease on to later generations. Huntingtons, however doesn’t display until age 35+, so many people do reproduce, not knowing their genetic disorder til too late. Codominance occurs when both genes influence a characteristic. o Sickle cell trait is present in many African Americans, but Sickle cell anemia occurs when the child inherits 2 recessive genes. Because the red blood cells are deformed, they clog the flow of blood and the sufferer has attacks of pain, swelling and tissue damage. Most die in the first 20 years. Dominant and recessive characteristics: dark hair dominates blond hair; dimples dominate over no dimples, Type A blood dominates Type O blood, Rhpositive blood dominates Rh-negative blood. Dominant and recessive diseases o Recessive diseases Cystic fibrosis PKU disease Sickle cell anemia Tay-Sachs disease o Dominant diseases Huntington disease Marfan syndrome o X-linked diseases Duchenne muscular dystrophy Hemophilia Diabetes insipidus X-linked inheritance affects males more often since they don’t have a matching X chromosome to block recessive inheritance on the X chromosome. Hemophilia mostly occurs in boys. Other disabilities afflict boys more often: miscarriage, infant death, birth defects, learning disabilities, mental retardation. Genetic imprinting – genes are imprinted, chemically marked so that one member of the pair is activated, regardless of its makeup. Diabetes is more often passed from the father. Asthma is more often passed from mothers. Fragile X syndrome results in moderate mental retardation, and autism yet it is expressed only when passed from the mother. Mutation is a sudden, permanent change in DNA. Radiation exposure results in mutation. Polygenic inheritance occurs when many genes determine the characteristic. Chromosomal Abnormalities generally occur during defects in meiosis when the sex cells are being formed. A chromosome pair won’t separate completely, etc. Down syndrome is the most common chromosomal disorder, 1/ 800 births. Symptoms are mental retardation, memory, speech problems, slow motor development. There are distinct physical features in the face, often cataracts, heart and intestinal defects. With adequate stimulation and therapy, they can develop more normally. Risk increases with age of mother (1/30 at age 45) Abnormalities of the sex chromosomes- when they are severe, most pregnancies spontaneously abort in miscarriage. o XYY syndrome- males with specific learning disabilities. o XXX syndrome- girls with reading and vocabulary difficulties. o Klinefelter syndrome (XXY) boys with physical disabilities. o Turner syndrome (XO) girls who are infertile, without female organs, and disabilities in spatial relationships. Reproductive choices Genetic counseling can assess a couple’s chances of producing a child with a hereditary disorder. This is essential if either person has a family history of disease or disorder. They can detect if a parent is a carrier of a disease. Prenatal diagnostic methods permit detection of problems before birth, so the parents can make a decision about carrying baby to term. o Amniocentesis- testing a sample of fluid in the uterus to examine fetal cells for defects. 11 – 14 weeks after conception. o Chorionic villus sampling retrieving tissue from the membrane surrounding the fetus to examine cells. Can be done at 6 – 8 weeks. Risks of miscarriage and limb deformities. o Fetoscopy - a scope with light is inserted to visually inspect the fetus for gross abnormalities. 15 – 18 weeks. Some risk of miscarriage. o Ultrasound- reflection of sound waves creates a picture of fetus on a screen. o Maternal blood analysis can be done by 2nd month of pregnancy, when levels of alpha-fetoprotein may indicate some problems, genetic defects. o Preimplantation genetic diagnosis- removing a cell or 2 from a zygote that is prepared to be implanted in the mother after in vitro fertilization. Genetic engineering is developing in order to correct hereditary defects. Genes have been identified by the Human Genome Project that link to severe diseases such as cystic fibrosis, Huntington disease, Duchenne muscular dystrophy, etc. Gene therapy occurs when healthy genes are put into the defective cells to correct an abnormality. o Social/ moral issues of reproductive technologies Donor insemination- using sperm from an anonymous donor when the husband has problems with fertility. In vitro fertilization- removing the mother’s ova, fertilizing them in a dish of nutrients and implanting the zygote. Sex sorting can be done to ensure a girl or boy- particularly important if parents carry an X-linked disease. Surrogate mothers are used when a woman can’t carry a pregnancy herself. The surrogate carries the implanted zygote to term and is paid a fee. Sometimes family members offer to be surrogates. Cloning is only known to be successful in some animals, but there is reason to believe some scientists are working toward cloning humans- possibly to harvest parts. Very controversial. Genetic testing is suggested for people holding high risks for genetic diseases. There are fears that general testing could result in discrimination against people who may have genes for cancer, heart disease, etc. Adoption has become more popular as young adults begin thinking about having babies later and may have problems conceiving. More young women are keeping their own babies, so the pool of healthy adoptees is shrinking. As a result many babies are being adopted from other countries. Adopted children do have more learning and emotional difficulties than other children, particularly if they are adopted after infancy. In general, most adoptees develop normally and are well adjusted as adults. Environmental contexts Family is a powerful influence on development, attitudes, attachment, social skill development. All members of the family influence all other members. o Direct Influences- the direct effects of your behavior on others. Kindness is usually returned with kindness, abusive attitudes return hostility. o Indirect influences- the relationship between 2 members of the family is affected by a third. The warmth of the marital relationship affects the security and health of the children. Abuse of one person affects others. Third parties can mediate the influences of more direct members- such as a grandparent can mediate effects of disturbed parents on a child. o Adapting to change – change is the name of the game in human development, nothing stays the same for long. Well-adjusted people learn to roll with the punches and find something positive. Socioeconomic status is stratified by: o Years of education o Prestige and skill required by job o Income o SES affects many aspects of a family’s function- health, safety, education, size of family, values, parenting styles, verbal styles with babies, expectations for youth. Poverty threatens the development of every member of a family. Poverty has increased in the past 30 years. 12% of US and Canada are in poverty. It is hardest on families with young children and the elderly, as well as minorities & women. The child poverty rate is higher in the US than any other Western country. Multiple stressors caused by poverty affect the stability of the family. There is little energy left over for parenting children. Safety is a huge concern. Many deteriorate into homelessness. Many homeless are suffering mental disabilities. Most homeless are women with children under age 5. Neighborhoods offer socialization experiences for children. Simply living in a healthier, safer neighborhood induces better physical & mental health & school achievement. Poorer families benefit from neighborhood resources, parks, afterschool programs, etc. Neighborhood programs reduce stress on parents. Towns and Cities also affect children’s development. Small towns offer more personal connections among members. Children have more opportunities to develop leadership skills. Larger cities offer more museums, ball games, music venues, academic challenges. There is more isolation in cities, though. Cultural Context Cultural values in our general culture support independence of members. However, many minority cultures emphasize family interdependence, helping one another, supporting the elderly in the extended family structure. o Subcultures are groups of people with beliefs and customs that differ from the larger culture. o Extended family households are particularly common in AfricanAmerican culture- where 3 or more generations live together. This is also common in Asian, Native American, & Hispanic cultures. o Collectivist societies are those where people define themselves as part of a group and stress group goals over individual goals. (Eastern) o Individualistic societies are those where people think of themselves as separate entities and are very concerned about their own goals. (Western) Public policies are laws and government programs that should improve life for the population. These have to do with public housing, reducing crime, increasing welfare or minimum wages, educational policies and funding. o For children, youth, & families policies concern child poverty, infant mortality, teen pregnancy rates, education and health, enforcing child support, vocational training. o For the elderly policies concern social security benefits, age discrimination and abuse, health benefits, safety. Heredity and environment affect one another Heritability estimates measure the extent that traits are inherited genetically. o Kinship studies compare characteristics of family members. Twins are compared on certain traits, parents and children, parents and adoptees. Concordance rates are the percentage of instances when the 2nd twin shows a trait when it is present in one twin. Range is 0 to 100%- 100% means a trait is present 100% of the time in the 2nd twin when found in one twin. Intelligence has .50 heritability in twins. Genetics explains half the variation in intelligence. Personality traits show less heritability than intelligence. Schizophrenia has a 50% concordance rate in identical twins, 18% for fraternal twins (still much higher than in the general population) Depression is 69% in identical twins, 25% in fraternal twins. Heritability estimates can be misapplied and used to discriminate against groups. This was the justification for the Holocaust in Germany – to rid the society of poor genetic specimens- except the groups deemed undesirable extended way beyond Jews to blacks, those with mental defects, gays, etc. The fact is that environment has a great influence on what characteristics are displayed and how disabilities are overcome. Reaction range is your unique response to the environment. So your potential can be maximized or inhibited depending on stimulation in the environment. Canalization is the tendency of heredity to restrict the development of a characteristic to a few outcomes. Strongly canalized behaviors are very genetically based and not subject to much environmental impact. Genetic-environmental correlation – our genes influence the environments we are exposed to. o Passive correlation is when the child has no control over the environment. Parents construct a certain environment into which the child comes and adapts. o Evocative correlation is when the child evokes responses based on his/her own heredity. An active baby induces others to pay attention and respond to him. An irritable baby induces impatience in caretakers. o Active correlation is more common at older ages as children choose activities and friends to fit their nature. Niche-picking is the active choice of environments that fit us. This may be why identical twins separated at birth, when reunited find they share many preferences. o Environmental influences on gene expression- the process of influence is bi-directional. Epigenesis means the development resulting from ongoing bidirectional exchanges between heredity and environment. All relationships challenge us to develop out of our comfort zone. We learn who we are as we interact in the larger world.