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1、Genetic Issues for Perinatal Nurses, 3rd Edition 2010 March of Dimes FoundationThe Human Genome ProjectvBegan in 1990 as an international consortium, including the NIH and Department of EnergyvHuman genome sequencing announced in 2003, opening a new era in understanding health and illnessvContinues
2、to address ethical, legal and social implicationsvwww.genome.govhttp:/ 夹桶器 汽车尾板 升降平台 http:/ 2010 March of Dimes FoundationRelevance to NursingvAll nurses must be competent in genetics and genomics.vThe Consensus Panel on Genetic/Genomic Nursing Competencies (2006) developed essential genetic/genomic
3、 nursing competencies and curricula guidelines.vSeveral nursing organizations have published practice guidelines related to genetics and genomics. 2010 March of Dimes FoundationTerminologyvGenetics The study of individual genes, including the impact of individual genes on relatively rare disorders.v
4、GenomicsThe study of all genes in the human genome, including the study of interactions among genes and interactions between genes and the environment v(Guttmacher & Collins, 2002) 2010 March of Dimes FoundationTerminology (Continued)vGenetic counselingA communication process that deals with human p
5、roblems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family (American Society of Human Genetics, 1975).vGenetic evaluationBroader than genetic counseling; includes information gathering, information sharing and value-neutral counseling. 2010 March of Dimes Fo
6、undationTerminology (Continued)vInformed consentThe process of communication between a client and a health care provider that results in the clients authorization or agreement to undergo a specific medical intervention (American Medical Association, 2009). 2010 March of Dimes FoundationGenetics Heal
7、th ProfessionalsvMedical geneticistsMD or PhD degree with advanced training in geneticsvPhysiciansCertification available from the American Board of Medical GeneticsvGenetic counselorsMasters degree; certification available from the American Board of Genetic Counseling 2010 March of Dimes Foundation
8、DNA Structure and Replication vDNA provides the codes for proteins. It is a double helix made of two strands held together with chemical bonds. vDNA replicates by undoing the bonds and creating a complementary strand.vAs the strands separate, one serves as a template for messenger RNA (mRNA), the st
9、ructure that carries information stored on DNA to where proteins are synthesized. 2010 March of Dimes FoundationDNA Molecule (National Cancer Institute, 1982) 2010 March of Dimes FoundationGenesvThe human genome consists of approximately 30,000 genes (U.S. Department of Energy, Office of Science, 20
10、09).vMutations are alterations in the genetic code. They occur rarely.vDifferences that occur more frequently are called polymorphisms. 2010 March of Dimes FoundationChromosomesvGenes are organized in a linear fashion along chromosomes. vChromosome pairs 1 through 22 are called autosomes.vThe 23rd p
11、air contains the sex chromosomes: XX in females and XY in males. 2010 March of Dimes FoundationChromosomes (Continued)vNormal male karyotype (National Cancer Institute, 1997) 2010 March of Dimes FoundationChromosomes (Continued)vWhen the alleles on a pair of chromosomes are identical, the person is
12、called homozygous for the trait.vIf the alleles are different, then the person is heterozygous for the trait. 2010 March of Dimes FoundationChromosomes (Continued)vBefore a somatic (non-gamete) cell divides, the chromosomes duplicate so that each resulting cell has the original number of 46 chromoso
13、mes; this type of cell division is called mitosis.vMeiosis is a two-step cell-division process that occurs in cells that generate sperm and egg cells. 2010 March of Dimes FoundationChromosomes (Continued)vDuring meiosis, crossing over can allow homologous chromosomes to exchange sections of genetic
14、material; this is called recombination.vDuring meiosis, a separation error can cause: Monosomy (resulting zygote has one copy of a chromosome)Trisomy (resulting zygote has three copies of a chromosome) 2010 March of Dimes FoundationChromosomes (Continued)vChromosomal abnormalitiesStructuralChromosom
15、al 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 2010 March of Dimes FoundationPatterns of InheritancevMendelianSingle-gene disorders caused by mutations in a specific gene; can use Mendels laws to predict the likelihood of inheritancevNon-MendelianvMultifactorialOccur when genes and environmental factors interact
