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1、Genetic Issues for Perinatal Nurses,3rd Edition,The Human Genome Project,Began in 1990 as an international consortium,including the NIH and Department of EnergyHuman genome sequencing announced in 2003,opening a new era in understanding health and illnessContinues to address ethical,legal and social
2、 implicationswww.genome.gov,http:/夹桶器 汽车尾板 升降平台 http:/,Relevance to Nursing,All nurses must be competent in genetics and genomics.The Consensus Panel on Genetic/Genomic Nursing Competencies(2006)developed essential genetic/genomic nursing competencies and curricula guidelines.Several nursing organiz
3、ations have published practice guidelines related to genetics and genomics.,Terminology,Genetics The study of individual genes,including the impact of individual genes on relatively rare disorders.GenomicsThe study of all genes in the human genome,including the study of interactions among genes and
4、interactions between genes and the environment(Guttmacher&Collins,2002),Terminology(Continued),Genetic counselingA communication process that deals with human problems associated with the occurrence,or the risk of occurrence,of a genetic disorder in a family(American Society of Human Genetics,1975).
5、Genetic evaluationBroader than genetic counseling;includes information gathering,information sharing and value-neutral counseling.,Terminology(Continued),Informed consentThe process of communication between a client and a health care provider that results in the clients authorization or agreement to
6、 undergo a specific medical intervention(American Medical Association,2009).,Genetics Health Professionals,Medical geneticistsMD or PhD degree with advanced training in geneticsPhysiciansCertification available from the American Board of Medical GeneticsGenetic counselorsMasters degree;certification
7、 available from the American Board of Genetic Counseling,DNA Structure and Replication,DNA provides the codes for proteins.It is a double helix made of two strands held together with chemical bonds.DNA replicates by undoing the bonds and creating a complementary strand.As the strands separate,one se
8、rves as a template for messenger RNA(mRNA),the structure that carries information stored on DNA to where proteins are synthesized.,DNA Molecule(National Cancer Institute,1982),Genes,The human genome consists of approximately 30,000 genes(U.S.Department of Energy,Office of Science,2009).Mutations are
9、 alterations in the genetic code.They occur rarely.Differences that occur more frequently are called polymorphisms.,Chromosomes,Genes are organized in a linear fashion along chromosomes.Chromosome pairs 1 through 22 are called autosomes.The 23rd pair contains the sex chromosomes:XX in females and XY
10、 in males.,Chromosomes(Continued),Normal male karyotype(National Cancer Institute,1997),Chromosomes(Continued),When the alleles on a pair of chromosomes are identical,the person is called homozygous for the trait.If the alleles are different,then the person is heterozygous for the trait.,Chromosomes
11、(Continued),Before a somatic(non-gamete)cell divides,the chromosomes duplicate so that each resulting cell has the original number of 46 chromosomes;this type of cell division is called mitosis.Meiosis is a two-step cell-division process that occurs in cells that generate sperm and egg cells.,Chromo
12、somes(Continued),During meiosis,crossing over can allow homologous chromosomes to exchange sections of genetic material;this is called recombination.During meiosis,a separation error can cause:Monosomy(resulting zygote has one copy of a chromosome)Trisomy(resulting zygote has three copies of a chrom
13、osome),Chromosomes(Continued),Chromosomal abnormalitiesStructuralChromosomal material can break off and attach itself to another chromosome,a process called translocation.Deletions or duplications of genetic material within a single chromosomeAssociated with advanced maternal age,Patterns of Inheritance,MendelianSingle-gene disorders caused by mutations in a specific gene;can use Mendels laws to predict the likelihood of inheritanceNon-MendelianMultifactorialOccur when genes and environmental factors interact,
