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12/7/2013 FERTILIZATION FORMING A NEW LIFE Prepared by: Jess Roel Q. Pesole MULTIPLE BIRTHS GENETIC PROCESS GENETIC PROCESS GENETIC PROCESS CELL DIVISION Mitosis – two new cells are formed, each containing the same DNA as the original cell - nonsex cells divide through this process Meiosis – two new cells are formed, but each contain half the chromosomes of the original cell - gametes (sperm and egg cells) divide through this process 1 12/7/2013 WHAT DETERMINES SEX? WHAT DETERMINES SEX? MOTHER FATHER X X X Y Contains SRY gene (for maleness) GIRL BOY SEX CHROMOSOMES (2) AUTOSOMES (44) PATTERNS OF GENETIC TRANSMISSION PATTERNS OF GENETIC TRANSMISSION Genotype Genetic makeup Phenotype Observable characteristics Allele Two or more alternative forms of a gene that can occupy the same position on paired chromosomes and affect the same trait PATTERNS OF GENETIC TRANSMISSION GENETIC PRINCIPLES Mother’s genotype: Bb Father’s genotype: Bb B sperm B ova b ova BB Homozygous dominant Bb Heterozygous b sperm Bb Heterozygous bb Homozygous recessive B – brown eyes allele b – non-brown eyes allele 2 12/7/2013 GENETIC PRINCIPLES ABNORMALITIES Polygenic Inheritance - Traits are inherited due to interaction of several genes Multifactorial transmission – Traits are expressed due to environment and genetic factors Defects due to Dominant or Recessive Inheritance Sex-linked inheritance – Mutated gene (altered segment of DNA) is carried on the X chromosome; more likely among males who only have one X chromosome ABNORMALITIES ABNORMALITIES Sex-linked Inheritance Example: Hemophilia NOTE: Most mutated genes are recessive. ABNORMALITIES CHROMOSOME ABNORMALITIES Down syndrome Name Pattern Characteristics Down syndrome Extra 21st chromosome Mental retardation and physical abnormalities Klinefelter syndrome XXY Physical abnormalities among males Fragile X syndrome Abnormal X chromosome Mental retardation and learning disabilities Turner syndrome X0 Mental retardation, sexual underdevelopment XYY syndrome XYY Above-average height; tendency for low IQ 3 12/7/2013 CHROMOSOME ABNORMALITIES KLINEFELTER SYNDROME FRAGILE X SYNDROME TURNER SYNDROME HEREDITY-ENVIRONMENT INTERACTION Behavioral genetics – focuses on how much heredity and environment affect certain traits Methods of study 1. Family study – common traits among family members 2. Twin study – identical and same-sex fraternal twins 3. Adoption study – similarities between adopted children and (a) their adoptive families, and (b) their biological families STAGES OF PRENATAL DEVELOPMENT GENE-LINKED ABNORMALITIES Phenylketonuria (PKU) - inability to metabolize the amino acid phenylalanine (found in protein-rich foods); can cause mental retardation and hyperactivity; autosomal recessive Huntington’s disease – central nervous system deteriorates; can cause mental deterioration; autosomal dominant HEREDITY-ENVIRONMENT INTERACTION a. b. c. Genotype-Environment Interaction Genotype-Environment Correlation Passive – environment influences, child has no control Reactive/Evocative – child’s traits evoke responses from environment Active – niche-picking; child actively seeks experiences consistent with one’s genetic tendencies STAGES OF PRENATAL DEVELOPMENT Germinal stage - first two weeks after conception - Creation of the fertilized egg - Mitosis (rapid cell division) takes place - Ball of cells turn into a blastocyst, consisting of three layers: a. Ectoderm – will become the skin and nervous system b. Endoderm – will become the digestive and respiratory system c. Mesoderm – will become the muscle and skeletal system - Implantation – attachment of zygote to uterine wall 1. 4 12/7/2013 STAGES OF PRENATAL DEVELOPMENT STAGES OF PRENATAL DEVELOPMENT 1. Germinal stage - Life-support systems/organs for the embryo: a. Amniotic sac b. Placenta c. Umbilical cord 2. STAGES OF PRENATAL DEVELOPMENT STAGES OF PRENATAL DEVELOPMENT Embryonic stage – two to eight weeks after conception - organs and major body systems develop rapidly - Organogenesis – process of organ formation during first two months of conception - Spontaneous abortion (miscarriage) – expulsion of embryo/fetus that could not survive outside the womb; usually within first trimester Fetal stage – eight weeks after conception until birth - marked by appearance of first bone cells - fetus grows to 20 times its previous length - actively moves arms, legs, mouth, and head - finishing touches (fingernails, toenails) develop - fetus becomes viable (able to survive outside the womb) by the end of the seventh month 3. STAGES VERSUS TRIMESTERS GERMINAL STAGE (first two weeks after conception) FIRST TRIMESTER (first 3 months) EMBRYONIC STAGE (two to eight weeks after conception) FETAL STAGE (eight weeks after conception until birth) HAZARDS TO PRENATAL DEVELOPMENT 1. SECOND TRIMESTER (3-6 months) 2. 3. THIRD TRIMESTER (6-9 months) Teratogen – any agent that can potentially cause birth defects or abnormalities Factors that influence the severity of a teratogen Dose – the greater the dose, the greater the effect Genetic susceptibility – linked to the genotype of the mother and the child Time of exposure – more damage is done when they occur at critical periods of development 5 12/7/2013 HAZARDS TO PRENATAL DEVELOPMENT 1. 2. 3. Forms of Teratogens Nutrition and Maternal Weight – children born to malnourished and overweight mothers - lack of folic acid (a B-complex vitamin) is related to defects in nervous system Physical Activity and Strenuous Work – moderate exercise is good; demanding workload poses a risk Emotional States and Stress – intense emotions may lead to physiological changes that may affect her fetus HAZARDS TO PRENATAL DEVELOPMENT 5. 5. 6. 7. HAZARDS TO PRENATAL DEVELOPMENT 4. Forms of Teratogens Drug Intake a. Prescription and nonprescription drugs – includes antibiotics, antidepressants, diet pills, aspirin b. Alcohol – may lead to a child with fetal alcohol syndrome (FAS) c. Nicotine d. Caffeine e. Cocaine, Methamphetamine (shabu), Marijuana, Heroin HAZARDS TO PRENATAL DEVELOPMENT Forms of Teratogens Maternal illnesses a. HIV/AIDS b. Rubella (German measles) Maternal age – (A) adolescent mothers and (B) mothers who are 35 years old and above are at risk Paternal factors Environmental hazards PRENATAL TESTS Anencephaly PRENATAL TESTS Ultrasound Maternal blood screening 6