genetics concerned with the general mechanisms of heredity and the variations of inherited traits. genomics focusing on the function of all the human dna including genes and non coding dna regions Genomic health care is the application of known genetic variation to enhance health care to indiviudals and ther families heritability the risk for developing the disorder can be transmitted to ones childen in a recognizable pattern what is one outcome of genomic health care to identify personal risk for disease develpment and assist the person to reduce the risk by modifying his or her environment genes are the instructions for the making of all the different substances the humam body produces. ex hormones, enzymes, and protiens. “recipe for making protien” where are genes located in the cell nucleus.
importnat : every human cell with a nucleus has the entire set of human genes. what is a clomplete set of genes called genome what cell is responsible for making insulin the beta cell of the pancrease what are genes composed of DNA, which is present as 46 seperate large chunks within the nucleus how many pairs of chromosomes do genes have 23 Think of the the DNA as the ____________and think of each pair of Chromosomes as a__________________ and each gene as a individual________________ DNA = cookbook
Chromosome pairs = chapters
Genes =Recipe expalain the structure DNA linear double stranded structire composed of multiple inits of four different nitrogenous bases each attached to a sugar molecure. the bases in each strand are attatched by a phosphate group what are the four bases in DNA adenine,guinine, cytosine and thymine when does each base become a complete nucleotide when a five sided sugar( known as a deoxyribose sugar) and a phosphate group are attached what does thymine always form a pair with? adenine. and cytosine always pairs with guanin. Thus the bases of each pair are complemntary to each what shape does the 2 stranded DNA make loose helical shape what is the purpose of mitosis is for one cell to reproduce into two new cells each of which is identical to the call that started it. Cell cycle is mitosis that occurs in a regulated pattern when DNA sythesis is complete what is the resuly a set of double stranded DNA chromosome a specific large chunk of highly condesed double stranded DNA with each chunk containing billions of bases and hundreds of genes Karyotype an organized arrangement of all of the chromosomes presesnt in a cell during the metaphase section of mitosis. what is the smallest functional unit of a DNA Gene allele is an alternate form ( or variation) of a gene.
ex: there is one gene for blood type but there are3 possible gene alleles (ABO) what chromosome is blood type on 9 what chromosome is ear shape on 6 what is it called what a person has 2 identical alleles for a single gene trait homozygous what is it called when a person has 2 different alleles for a singe gene trait heterozygous phenotype is what can be observed genotype is what the actual alleles are for that trait- not just what can be observed when would the reccesive gene be shown only when the person is homozygous for those alleles what is the purpose of a gene to code for the making of a specific protien used by a cell tissue, or organ within a person. the process by which genes are used to make the protiens needed for physiologic funtion protien synthesis t/f The actual order of the amino acids is critical for the final function of any protien true wild type gene most people have the same base sequence for a specific gene, when this sequence is the most common one found in a large population of humans it is referred to wold type …………..normal….. If a gene does not match the wild tup gene it is said to have a mutation or variation mutations DNA changes that are passes from one generation to another and thus are inherited somatic mutation mutation is passed from one cell generation to another and may affect only certain tissues within that person……. this happens after conception and can not pass a somatic mutation on to their children what is it called when you have a mutationin sex cells germline mutation: it can be passed on to a person’s children susceptability genes gene mutations or variations that increase the risk for a disorder what are the genes called taht decrease the risk for a disorder protective what is it called when a base difference allows the protien to be made but there are differences in how well the protein works variationpolymorphism what is it called when a base difference causes a loss of protein function mutation point mutations substitution of one base for another why do some point mutations still allow the protien to function and some point mutation inhibits function function just depends on how critical that amino acid that was replace was to the function occur as a result of adding or deleting a single base or a group of bases frameshift mutation why are frame mutations very serious because a normal product cannot be made from a gene with such mutations: These mutations ruin the reading of seq., protien synthesis, and amino acid position. how genes are expressed are dependent on what 2 things 1. weather one or both alleles are dominant or reccesive
2. wgether the gene for the trait is located on an autosome of on a sex chromosome pedigree graph of a family histroy for a specific trait or health problem over several generations what are the four types of inheretance patterns autosoma recessive, autosomal dominant
, sexliked dominant, and sex linked recessive Autosomal dominant pattern of inheritance a single gene traits that require that the gene alleles controlling the trait be located on an autosomal chromosome penetrance how often or how well within a population a gene is expressed when it is expressed:
penetrance is claculated by examining a population of people known to have the fene mutation and assessing the percentage that go on to express the gene by developing the disorder
Expressivity is the degree of expression a person has when a dominant gene is pressent
Personal issue not a population issue. The gene is always expressed however some individuals have more severe problems Autosomal recessive gene require that the gene controlling the trait be located on an autosomal chromosome. This can only be expressed when BOTH alleles are present what is an example of a AR trait O blood. The blood type O allele is recessive and both alleles must be ) type in order for that person to express typ ) blood why are X linked recessive genes dominent in males males have only one X chromosome, and therefore cannot balance out the presence of a recessive gene on the first chromosome. why are some diseases called complex or multifactorial because even thought a person my have increased genetic risk, the persons diet, lifestyle, exposure to toxins and infectious agents factor into it. Benefits of genetic testing 1. Ability to confirm a diagnosis or to test people who are at risk for health probelms but do not show syptoms yet.
2. help develope plan of care Risks of genetic testing physiologicaal and social
depression blame guilt
Expensive and insurance does not cover
insurance discrimination describe the process of genetic testing should begin when family is first identified as potentially havine a genetic problem
continues throught actual testing and interpretation
** IT IS IMPORTANT FOR THE NURST TO EXUCATE PT’S ON THE BENEFITS AND RISKS, AND ALSO COUNCIL THAT PAT BEFORE DURING AND AFTER THE TESTING.
who are some professionals who can do genetic testing advanced practicle nurse with spec. in genetics
certified genetic counselors
clinical geneticists medical geneticits what is the key feautre of counciling a pt in regards to genetic testing non directive… explaning both benefits and risks and does not influence pt in either direction what are 3 areas of a med surg nurse in working with patient who are considering having genetic testing communication: Be a pt advocate, make sure that the communication between the pt and person performing test is clear
privacy: pt has right to withold info from family, rimary care giver