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Patterns of Inheritance
For every single gene trait, a person inherits one allele for that gene from their mother and one allele from their father. How traits expressed Depend on whether 1 or both alleles are dominant Whether one or both alleles are recessive Whether the gene for the trait is located on autosome or on a sex chromosome

Pedigree- (family tree) graph of family history for specific trait or health problem over several generations.
y y y y

(Typically 3 generation).

When talk to patients use terminology Family Tree instead of pedigree. Construct a family tree of 3 generations when take family history The pedigree should answer these questions: Pattern of inheritance recognized? Or trait sporadic? Trait expressed equally bt male/female family members or unequally? Does it only affect ppl who have children affected w/ trait or unaffected ppl also have children w/ expressed trait?

Transmitted- determine how gene for specific trait is passed from one human generation to the next
By looking how trait is expressed thru several generations of a family, patterns emerge indicate whether that gene is dominate or recessive and whether it s located on autosomal chromosome or on one of the sex chromosomes. This info can be determined thru a pedigree analysis. Determining inheritance patterns for specific trait makes it possible predict risk for any one person to have trait or transmit that trait to their children.

Four Types of Inheritance Patterns Associated w/ Single Gene-controlled Traits:

1. 2. 3. 4. Autosomal Dominant patterns Autosomal Recessive Patterns Sex-Linked Dominant Sex-Linked Recessive

Recessive allele- person is a carrier of the gene allele. Dominant allele- person is said to have inherited the gene allele and it is the gene that is expressed or what is actually physically seen. Carrier- a person who has one mutated allele for recessive genetic disorder, but does not usually have any manifestations of the disorder but can
pass this mutated allele on to their children. Test Question: There are 10 variations to the gene pattern. How many allels did the patient inherit to make this combination in gene variations? ANSWER: A person only inherits 2 allels and that s it. One from the mother and one from the father. The genetic variation possibilities can be 10 or 20 doesn t matter, the recessive/dominance factors is what influences the variation possibilities. A PERSON ONLY GETS TWO ALLELS.

Autosomal Dominant Patterns

A single gene trait require that gene alleles control the trait be located on autosomal chromosome. A dominate gene allele is expressed even when only one allele of pair is dominant. Heterozygous- Dominant trait A, recessive trait Y: genotype does not match phenotype = Expressed trait is trait A (dominant) Recessive trait Y = Carrier Homozygous- Dominant trait A, Dominant trait A: genotype mates phenotype = Expressed trait is trait A (dominant)

Autosomal Recessive
Gene traits require the gene controlling the trait be located on autosomal chromosome. Trait expressed only when both alleles are present. Heterozygous- carriers of the trait unaffected people who are carriers that do not express the trait themselves but can transmit the trait to their children if their partner is either also a carrier or is affected. Phenotype does not = genotype Homozygous- person has two alleles of this trait: trait is expressed. Phenotype = genotype

Familial Clustering
Some traits and disorders cluster w/in a family but do not follow any known pattern of inheritance. Clustering just suggest a genetic basis. Disorders that show familial clustering: environmental factors may modify a genetic predisposition. Some problems appear in families at higher rate than normal & greater than can be accounted for by chance alone. No specific pattern occurs win a family. Factors like gender/ environment influence disease dev. / severity. Alzheimer s disease, type 1 diabetes = complex and multifactorial disorders bc although increased genetic risk present, risk is changed by diet, lifestyle, exposure to toxins/ infectious agents ect. Ex. Risk dev. type 2 diabetes: autosomal dominant pattern: whether person who has inherited genetic risk actually dev. disease depends on other factors: obesity and sedentary lifestyle.

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Sex-Linked Recessive
Genes only present on sex chromosomes. Y only has a few genes not also present on X. X: has many single genes not present on Y. Few traits/ disorders have X-linked dominate pattern of expression. X chrom males 1:2 ratio, X-linked recessive genes have a dominant expression in males and recessive expression in females. Gene allele must be present both X chrom for trait to be expressed in females, only 1 present for males.

How Strong Genetic Components Are

Penetrance- how often or how well, w/in a population a gene is expressed when it is present. Some genes more penetrant than others. It is calculated by examining a population of ppl known to have the gene mutation and assessing the % that go on to express the gene by dev. the disorder. Strong Penetrance or Fully Penetrant Genes: EX: Huntington disease autosomal dominant pattern of transmission therefore person who has 1 HD allele is at risk for dev. HD. This gene is highly penetrant . Means if a person has the HD gene allele, their risk expressing the gene and dev. the disease 99.99%. Reduced Penetrance Genes: means person w/ this gene mutation has lower risk for this gene being expressed & actually dev. the disorder EX: BRCA2 gene for breast cancer. This gene reduced penetrant, so some women and men who have gene do not dev. breast cancer penetrance rate for this gene mutation is 60-80%: person w/ this gene has 60-80% chance they will dev breast cancer. Having a reduced penetrance gene does not absolutely predict that the person will dev. breast cancer = just that the risk is high Expressivity Expressivity- degree of expression a person has when dominant gene is present. This is a personal issue opposite from Penetrance which is population issue. Expressivity accounts for some variation in genetic disease severity. The gene is always expressed, but some ppl have more severe problems than do other people. EX: gene mutation for one form of neurofibromatosis NF1 is dominant. Some ppl w/ this gene have only few light brown skin tone areas known as caf au lait spots. These skin lesions so minor that person may not be aware they are present. Other ppl w/ gene mutation dev. hundreds of tumors (neurofibromas) that protrude thru skin.

Genetic Testing and Counseling

Role of Medical-Surgical Nurse in Genetic Counseling: Pt feel comfortable w/ nurses: share info w/ nurses and ask nurse to clarify info Nurse may be first to identify pt at specific genetic risk and bring it to light- during assessment pt revels mother died breast cancer 40 years old: bone cancer rare among adults, nurse should ask: did your mother ever have any other type of cancer pt reveal mother had breast cancer b4 the bone cancer: breast cancer spread to the bones. Breast cancer at early age indicate genetic predisposition. Red flags include: y disease/disorder occurs higher incidence w/in the family compared w/ general population y pt / close family members have identified genetic problem y incidence specific disease occurs in pt/ or in family members at unusually early age y rare disease is present in 2 or more family members y more than one type of cancer is present in any one person y specific manifestation associated w/ one or more genetic disorders: ex. unusual freckling/ skin pigmentation, bicuspid aortic valve, deafness Pt ask questions indicate they have interest in genetic testing Ex. of cues pt has genetic concerns: y will my children get this disease? , bc my sister has this problem, what my chances I will get it?, is there a way test and see whether my chances getting disease problem are high or low? Nurse responsible for when working w/pt have genetic testing include: Communication- act as pt advocate ensure communication bt pt and provider of genetic info is clear. Asses pt ability receive/ process info. Can pt see/ hear clearly, assistive devices needed, interpreter needed? pt have adequate cognition or is it impaired by medication, disease, anxiety, fear. If pt appears not to understand terms discussed, ask the genetic profession to use common terms and examples for the pt. Verify w/ pt that they understand or don t understand- ask pt explain in their own words what issue means and what their expectations are. Privacy/ Confidentiality- All conversations regarding potential diagnoses/ genetic testing need occur in private environment. pt has right determined who may be a part of discussion. Pt can decide to exclude primary Dr or any family member. Impt. health care professionals who may be present during discussion do not disclose info, formally or informally w/o pt permission. its nurse responsibility protect info from improper disclosure to family members, or other Drs, insurance providers, or anyone not specified by pt.

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Information Accuracy- Correct myths about genetic disorders, teach pt about nature of genetic testing. help pt find accurate/helpful resource materials. Med-surg nurse not genetic experts: not source of definitive info, but help ensure that pt is referred to the correct level of genetic counseling. If nurse is present during pt discussions w/ genetic professional, assess if pt understand issue regarding the health problem Pt Advocacy/ Support- Ensure pt rights not neglected or ignored. Ask pt privately their wishes regarding genetic testing. Ask if another person/agency is insisting on the testing. Remind pt that they do not have to agree to be tested. Verify pt has signed an informed consent statement for the test. Genetic testing should only be performed after genetic counseling has occurred and should be followed w/ opportunity for more counseling. Genetic testing: stressful. Pt/family require strong support may need find best way to cope. Assess pt response to genetic test results. ask about coping mechanisms used in past. If info shared w/ family members assess if family can provide support for themselves. Assess info about positive results has strained family relationships. Refer pt to appropriate support groups and general counseling services. Reduced Penetrants- pt should have a plan for prevention and risk reduction. One form of prevention is early detection. Teach pt who test is positive that indicate increased risk for specific health problem about types of screening procedures that are available and how often screening should occur. High risk for breast cancer and ovarian cancer choose the primary prevention methods of prophylactic mastectomies and oophorectomies. BRCA 1 mutation- at least yearly mammograms and ovarian ultrasounds to detect cancer at early stage when it s more easily cured.

SEE CHART BELOW!! TEST QUESTIONS

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4 Types of Inheritance Patterns Analyze the Traits

Recognized (appear continuous in generation) Appear sporadic Present in q generation Skip one or more generations Present in all generations of any one branches of family Only affected ppl have children who are affected % Risk Pregnancy Affected ppl Unaffected ppl have children who are affected & express the trait % Risk Pregnancy Unaffected ppl

Patterns of Inheritance for Genetic Disorders Autosomal Dominant Autosomal Recessive

Sex Linked Recessive

Yes No Yes: appears in every generation no skipping No

May not Yes May not Yes May not appear in all generations of any one branch of a family children of two affected parents will always be affected 100%: children of two affected parents will always be affected 25% of family will be affected and express the trait. Unaffected people who are carriers (heterozygous for trait) & do not express trait themselves can transmit the trait to their children if their partner is either affected or is a carrier Appears first in siblings rather than in parents themselves

Yes or No Yes or No Yes may be, or No Yes it can, Yes or No

Yes 50% pass trait to child No 0%

Trait can t be passed down from father to son Transmission trait Father to all daughters (daughters are carriers) Female carriers 50% risk passing gene to their kids Trait can t be transmitted from father to son Female get trait from father: 50% transmission rate

How is trait expressed

Expressed equally among male / female family members Expressed unequally among male / female family members

Yes found equally in males and females No

Yes equal in male and female members of same family No

X-linked recessive genes: dominant expression in males & recessive in females (carrier) unless homozygous No Yes: Incidence of Trait much higher in males in a family than females X-lined recessive require gene allele present both X chromo. for trait be expressed in females On only 1 x chrom. for trait expressed in males Trait can t be transmitted from father to son Female get trait from father: 50% transmission rate # X chrom. in male / female not same 1:2 ratio, males have 1 X chrom. X-linked recessive genes have dominant expression in males and recessive expression in females. X-linked req. allele be present on both X chrom. for trait be expressed in females homozygous, & only 1 x for trait expressed in males Mother pass to daughter and son. Father only pass to daughter. Females: X-linked chrom. must have 2 gene traits on X chrom. for gene to be expressed = homozygous (from mother and father) Expressed for female = gene be homozygous Zero expression for male = mother not have Xlinked trait so can t be inherited Expression for male = mother pass trait to son, father can t .. so it s never homozygous for males Males: X-linked chrom. must have 1 gene trait on X chrom. for gene to be expressed = heterozygous Expressed for males = gene be heterozygous Female- X-linked chrom. passed from father only, but not from mom so its heterozygous = female is carrier of the trait Carrier for females = gene be heterozygous (from father only) Hemophilia, Red-green color blindness, Glucose-6phosphate dehydrogenase deficiency

Risk pregnancy for Unaffected ppl Definition of Pattern

0%

25% of family will be affected and express the trait Single gene traits require gene controlling the trait be located on autosomal chromosome. Trait expressed only when both alleles are present

Ex Homozygous

Single gene traits require gene alleles controlling the trait be located on autosomal chrom. Dominant gene allele expressed even when only 1 allele pair is dominant. When Dominant allele is paired w/ recessive allele, only dominant allele is expressed. Blood type A allele: he will express type A blood genotype = phenotype Blood type B (dominant) Test Question see punnett squares below.

Type O blood (recessive allele): both alleles must be type O (homozygous) for person express type O blood. Sickle Cell Anemia: person has 2 sickle cell alleles = have disease w/ a lot of associated health problems. Test Question see punnett squares below

Ex Heterozygous

Blood type A allele: w/ O (recessive) he will express type A. phenotype not = to genotype Blood type B Blood type AB: alleles A & B expressed bc both are equally dominant. Blood types A, B, and AB, breast cancer, diabetes type 2, polyposis, melanoma, hypercholesterolemia

Examples of this Disorder (Expressed genes)

The Carrier, Has the Trait Type O blood: with type A blood allele: type A expressed bc type A recessive. The O allele is present, but not expressed. Sickle Cell Anemia: Person w/ 1 sickle cell allele: carrier has sickle cell trait is healthy, manifestations are only under conditions of severe hypoxia. O Blood type, albinism, alpha-antitrypsin deficiency, beta thalassemia, bloom syndrome, cystic fibrosis, hereditary hemochromatosis, sickle cell, xeroderma

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TEST QUESTION: A person inherited type O from the mother and type A and type B from the father. What blood type will the child be? Test question gives you senerio. You have to make the punnett square: it will give u ans. But test is about A, B, AB, O blood types: which explains in chart: A, B, AB are dominant and O is recessive. These are some examples of how to do it w/ the blood types I cant remember now the combo that was on the test, I think it was the 100% one (1st one) but im not sure that s why I did other combos to show you how to do it for the test. The B o or AB o = it s a little o because o is recessive and therefore its silent, the child from these squares would just express or inherit AB, A, or B the o is recessive so it only shows up if someone does an extensive gene test doesn t show up when person is typed and crossed for blood so the child from 1st chart would receive AB type blood if it needed a blood transfusion. DAD AB MOM O O AB o AB o AB o DAD AB AB o

Child will 100% be AB blood type because AB blood type is Dominant over O blood type. DAD B MOM O Bo
(o-silent, not expressed or doesn t show up if type and cross this childs blood)

DAD O OO

O Bo OO

50% child will inherit B blood type and 50% chance child will inherit O blood type. DAD AB MOM B O AB o OO ABB DAD O Bo

50% chance child will have AB blood type. 25% chance child will have B blood type and 25% chance child have O blood type.