Chapter 2: Heredity & Prenatal Development LO 1. The influence of heredity on development Heredity transmission of genetic material across generations Chromosomes contain genes; 46 in total; 23 pairs o 22 pairs = autosomes o 23rd pair = sex chromosomes (XX = girl; XY= boy) Ova X; Sperm X or Y Genes segments of DNA that regulate development of traits o Allele one version of a gene pair Homozygous alleles are same Heterozygous alleles are different Recessive trait expressed if both alleles are recessive Dominant trait always expressed *Review Table 2.1 and note which traits are dominant and which are recessive* Chromosomal Abnormalities Down Syndrome Extra chromosome on 21st pair o Cognitive/ motor deficits; cardiovascular issues; characteristic facial features Sex Linked Chromosomal Abnormalities o Klinefelter’s Syndrome/ Turner’s syndrome) o Abnormalities in number/ structure of sex chromosomes Infertility Genetic Abnormalities Phenylketonuria (PKU) recessive; can’t metabolize phenylalanine (early screening & diet) Sickle Cell Anemia RBC clump oxygen; more common in black North Americans Huntington’s disease (not in lecture) dominant; degeneration of brain cells (onset30s) Tay-Sach’s Disease recessive; degeneration of nervous system; fatal in childhood Cystic Fibrosis recessive; mucus clogs lungs/ pancreas affects digestion/ respiration Prenatal Genetic Testing Amniocentesis Chorionic Villus Sampling (CVS) Ultrasound Blood tests LO 2. Heredity and the Environment Genotypes set of traits we inherit (genetic blueprint) Phenotypes actual trait expression; influenced by heredity & environment Epigenetics heritable variations in gene expression Estimating genes vs/ environmental influences o Kinship studies are genetically closer relatives more similar? o Twin studies are identical (MZ) twins more similar than fraternal (DZ)? o Adoption studies are children more similar to biological vs. adopted parent? Chapter 2: Heredity & Prenatal Development LO 3. Conception Conception union of an ovum and sperm cell o Zygote fertilized ovum containing 46 chromosomes (23 pairs) o Dizygotic Twins two ova are fertilized by different sperm (fraternal) o Monozygotic Twins one zygote splits into two identical parts (identical) Infertility in men low sperm count/ motility o Causes Infertility in women irregular/ lack of ovulation o Causes Assistive reproductive technology o Fertility drugs o Artificial insemination o Invitro fertilization LO 3. Prenatal Development Germinal (zygotic) stage first 2 weeks o Zygote rapidly divides to form blastocyst o Blastocyst travels down fallopian tube and implants into uterine wall Embryonic stage 3-8 weeks o Organogenesis organ systems differentiate Cephalocaudal head to toe Proximodistal center to extremities o Amniotic sac o Placenta Fetal stage 8 weeks- birth o Organs and brain mature / refine o Fetal perception (e.g., sound/ light) and movement Environmental influences effects depend on timing, intensity, duration & type of exposure o Teratogens toxic environmental agents o Maternal lifestyle malnutrition, stress, drugs, pathogens