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BIOLOGICAL BEGINNINGS © 2013 The McGraw-Hill Companies, Inc. All rights reserved. Chapter 2 The Role of Heredity on Development HEREDITY AND GENETICS • Heredity • One’s nature based on biological transmission of traits and characteristics • Genetics • Field within the science of biology that studies heredity • Genetics Influence our • • • Physical traits Behavioral traits Psychological problems THE COLLABORATIVE GENE • The nucleus of each human cell contains chromosomes • Chromosomes: Threadlike structures made up of deoxyribonucleic acid, or DNA • DNA: A complex molecule with a double helix shape; contains genetic information © 2013 The McGraw-Hill Companies, Inc. All rights reserved. THE COLLABORATIVE GENE • Genes: Units of hereditary information composed of DNA • Genes direct cells to reproduce themselves and manufacture the proteins that maintain life • Segments of DNA within chromosomes • Regulate development of traits • Transmitted by single gene or may be polygenic • Approx. 20,500 genes in every cell (2008) • Genome - The complete set of developmental instructions for creating proteins that initiate the making of a human organism © 2013 The McGraw-Hill Companies, Inc. All rights reserved. FIGURE 2.2 - CELLS, CHROMOSOMES, DNA, AND GENES © 2013 The McGraw-Hill Companies, Inc. All rights reserved. GENES AND CHROMOSOMES • Mitosis: Cellular reproduction in which the cell’s nucleus duplicates itself with two new cells being formed • Strands of DNA break apart, duplicate and are rebuilt • Each containing the same DNA as the parent cell, arranged in the same 23 pairs of chromosomes • Cell division by which growth occurs • Mutations can develop throughout our lives © 2013 The McGraw-Hill Companies, Inc. All rights reserved. GENES AND CHROMOSOMES • Meiosis: A specialized form of cell division that occurs to form eggs and sperm (or gametes) • 23 chromosome pairs divide • Result is a new cell with only 23 chromosomes • 22 pairs are autosomes • 23rd pair are sex chromosomes © 2013 The McGraw-Hill Companies, Inc. All rights reserved. SOURCES OF VARIABILITY • Meiosis • Crossing Over FERTILIZATION • Fertilization: A stage in reproduction whereby an egg and a sperm fuse to create a single cell, called a zygote • Zygote: A single cell formed through fertilization © 2013 The McGraw-Hill Companies, Inc. All rights reserved. SOURCES OF VARIABILITY • Monozygotic Twins (MZ) • Derived from a single zygote that has split in two • Identical twins • Dizygotic Twins (DZ) • Derived from two zygotes • Probability of twins increases • Maternal age • Use of fertility drugs © 2013 The McGraw-Hill Companies, Inc. All rights reserved. FIGURE 2.4 - THE GENETIC DIFFERENCE BETWEEN MALES AND FEMALES © 2013 The McGraw-Hill Companies, Inc. All rights reserved. SOURCES OF VARIABILITY • Mutation • DNA - A mistake by cellular machinery, or damage from an environmental agent may produce a mutated gene, which is a permanently altered segment of DNA © 2013 The McGraw-Hill Companies, Inc. All rights reserved. SOURCES OF VARIABILITY • Genotype: A person’s genetic heritage; the actual genetic material • Phenotype: The way an individual’s genotype is expressed in observed and measurable characteristics © 2013 The McGraw-Hill Companies, Inc. All rights reserved. GENETIC PRINCIPLES • Dominant-Recessive genes principle • Recessive gene is influential only if both genes are recessive • Sex-Linked genes • When a mutated gene is carried on the X chromosome, the result is called X-linked inheritance © 2013 The McGraw-Hill Companies, Inc. All rights reserved. GENETIC PRINCIPLES • Genetic imprinting • Occurs when genes have differing effects depending on whether they are inherited from the mother or the father • Polygenetic inheritance • Occurs when most characteristics are determined by the interaction of many different genes © 2013 The McGraw-Hill Companies, Inc. All rights reserved. GENETIC PRINCIPLES • Traits are determined by pairs of genes • Each member of pair is an allele • Homozygous • Both alleles for a trait are the same • Heterozygous • Alleles for a trait are different © 2013 The McGraw-Hill Companies, Inc. All rights reserved. FIGURE 2.5 - HOW BROWN-HAIRED PARENTS CAN HAVE A BLOND-HAIRED CHILD © 2013 The McGraw-Hill Companies, Inc. All rights reserved. TRANSMISSION OF DOMINANT AND RECESSIVE TRAITS FIGURE 2.5 – CHROMOSOMAL ABNORMALITIES © 2013 The McGraw-Hill Companies, Inc. All rights reserved. FIGURE 2.7 - SOME GENE-LINKED ABNORMALITIES © 2013 The McGraw-Hill Companies, Inc. All rights reserved. PRENATAL DIAGNOSTIC TESTS • Ultrasound sonography – • A prenatal medical procedure in which high frequency sound waves are directed into the pregnant woman’s abdomen © 2013 The McGraw-Hill Companies, Inc. All rights reserved. PRENATAL DIAGNOSTIC TESTS • Amniocentesis • Prenatal medical procedure in which a sample of amniotic fluid is withdrawn by syringe and tested for chromosomal or metabolic disorders © 2013 The McGraw-Hill Companies, Inc. All rights reserved. PRENATAL DIAGNOSTIC TESTS • Chorionic villi sampling • Prenatal medical procedure in which a small sample of the placenta is removed © 2013 The McGraw-Hill Companies, Inc. All rights reserved. PRENATAL DIAGNOSTIC TESTS • Maternal blood or triple screening • Identifies pregnancies that have an elevated risk for birth defects such as spina bifida and Down syndrome • Noninvasive prenatal diagnosis (NIPD) • Focuses on the isolation and examination of fetal cells circulating in the mother’s blood and analysis of cellfree fetal DNA in maternal plasma • Fetal sex determination • Noninvasive techniques have been able to determine the sex of the fetus at an earlier point by assessing cell-free DNA in maternal plasma © 2013 The McGraw-Hill Companies, Inc. All rights reserved. INFERTILITY AND REPRODUCTIVE TECHNOLOGY • Infertility • Inability to conceive after 12 months of regular intercourse without contraception • In vitro fertilization (IVF) • Eggs and a sperm are combined in a laboratory dish • Adoption • Social and legal process by which a parent-child relationship is established between persons unrelated at birth © 2013 The McGraw-Hill Companies, Inc. All rights reserved. CONCEPTION Against All Odds FERTILIZATION 1 5 14 • Egg is viable for 24 hours • Sperm is viable for 3 to 5 days • “Unsafe period” is from day 9 to 15 if ovulation occurs on day 14 day 7 to 17 could be unsafe 28 FEMALE REPRODUCTIVE ORGANS Figure 2.8 © 2013 The McGraw-Hill Companies, Inc. All rights reserved. CONCEPTION • Ova • Begin to mature at puberty • Monthly release of mature egg into Fallopian tube • Egg is propelled by cilia • If not fertilized, egg is discharged in the menstrual flow © 2013 The McGraw-Hill Companies, Inc. All rights reserved. CONCEPTION Figure 2.9 © 2013 The McGraw-Hill Companies, Inc. All rights reserved. CONCEPTION • Sperm • Self propelled and smaller than ova • Sperm with “Y” chromosome swim faster than sperm with “X” chromosome • From 200 to 400 million in ejaculate; only 1 in 1,000 arrive in vicinity of ovum • Sperm are attracted by chemical odor secreted by ova © 2013 The McGraw-Hill Companies, Inc. All rights reserved. BEHAVIOR GENETICS • The field that seeks to discover the influence of heredity and environment on individual differences in human traits and development • Twin study: A study in which the behavioral similarity of identical twins is compared with the behavioral similarity of fraternal twins © 2013 The McGraw-Hill Companies, Inc. All rights reserved. BEHAVIOR GENETICS • Adoption study: A study in which investigators seek to discover whether, in behavior and psychological characteristics, adopted children are more like their adoptive parents or more like their biological parents © 2013 The McGraw-Hill Companies, Inc. All rights reserved. FIGURE 2.11 - EXPLORING HEREDITYENVIRONMENT CORRELATIONS © 2013 The McGraw-Hill Companies, Inc. All rights reserved. SHARED AND NONSHARED ENVIRONMENTAL EXPERIENCES • Shared environmental experiences: Siblings’ common experiences, such as their parents’ personalities and intellectual orientation, the family’s socioeconomic status, and the neighborhood in which they live • Nonshared environmental experiences: The child’s own unique experiences, both within the family and outside the family, that are not shared by another sibling © 2013 The McGraw-Hill Companies, Inc. All rights reserved. THE EPIGENETIC VIEW AND GENE X ENVIRONMENT (G X E) INTERACTION • Epigenetic view: Emphasizes that development is the result of an ongoing, bidirectional interchange between heredity and environment • Gene x Environment (G x E) interaction: The interaction of a specific measured variation in the DNA and a specific measured aspect of the environment © 2013 The McGraw-Hill Companies, Inc. All rights reserved. CONCLUSIONS ABOUT HEREDITYENVIRONMENT INTERACTION • The relative contributions of heredity and environment are not additive • Complex behaviors have some genetic loading that gives people a propensity for a particular developmental trajectory © 2013 The McGraw-Hill Companies, Inc. All rights reserved.