Chapter 3 Genetics, Conception, Fetal Development, and Reproductive Technology
! Genetics " study of heredity
! Genomics " addresses all genes and their interrelationships in order to identify their combined influence on growth and
development of the organism
o Providing better methods for preventing disease and abnormalities, diagnosing diseases, predicting health risks,
personalizing treatment plans
! 30,000 genes in the human genome (organism’s complete set of DNA)
! 46 chromosomes; 22 homologous pairs of chromosomes and one pair of sex chromosomes
! genotype " person’s genetic makeup
! phenotype " how genes are outwardly expressed (eye color, hair color, height)
! recessive genetic disorders " sickle cell anemia, cystic fibrosis, thalassemia, Tay-Sachs disease
! carrier testing " identify individuals who carry one copy of a gene mutation that, when present in two copies causes a
genetic disorder; used when there is a family history of genetic disorder
! preimplantation testing/preimplantation genetic diagnosis " used to detect genetic changes in embryos that are created
using assisted reproductive techniques
! prenatal testing " early detection of genetic disorders
! risks for conceiving child with genetic disorder " maternal age older than 35, man/woman who has genetic disorder;
family history of genetic disorder, history of previous pregnancy resulting in a genetic disorder or newborn
abnormalities
! refer to support group whether they wish to terminate/continue with pregnancy
! sickle cell anemia
o most common of African ancestry
o sickle-cell hemoglobin forms rigid crystals that distort and disrupt RBCs; oxygen-carrying capacity of blood is
diminished
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Language | English |
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