Genetics. Genetics Disorders

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1 Genetics Nsg 3027 Women s Health Introduction Genetic disorders occur approximately 1 in 20 or 30% of pediatric admissions National Health Care Goals: Increase prenatal screening to 90% of pregnancies. Increase state sponsored programs to cover at least 95% of newborns, having positive tests, receive appropriate care. Genetics Disorders Defined as diseases that can be passed down from one generation to the next. Some are so severe, the fetus cannot survive. Others are only apparent with testing. Some come with extensive family histories, and some reveal no family history. 1

2 OBJ 1: Describe the basic unit of inheritance Genes are the basic unit of heredity, and are made of DNA. Genes are responsible for an individual s physical and cognitive characteristics such as hair and eye color. Chromosomes are the woven strands of DNA which are contained in the nucleus of each body cell. On the chromosomes lay the genes in orderly sequences. Chromosomes and genes 2

3 OBJ 2 : Write the number of chromosomes in body cells and reproductive cells Each body cell contains 46 chromosomes, except for the reproductive cells ( sperm and ova). The reproductive cells only contain 23 chromosomes. Somatic or body cells = 46 chromosomes Reproductive cells = 23 chromosomes Number of Chromosomes Somatic cell chromosomes exist in pairs. The two will actually look alike. So every somatic cell contains 22 pairs and 2 sex chromosomes, not 23 pairs - because the reproductive cells ( Sperm and Ova) are not necessarily in pairs Body cells or Somatic cells = 22 pairs + 2 sex chromosomes 3

4 Chromosome Arm Structures Chromosomes are structured with 4 arms in the two matched pair of chromosomes. The arms are joined at the center point called a centromere. 3 Arm Structures There are 3 kinds of arm structures: Metrocentric centromere is located in the middle making all 4 arms equal. Submetrocentric - centromere is located below center resulting in 2 long upper arms. Acrocentric centromere is located above center resulting in 2 short upper arms 4

5 Sex Chromosomes Reproductive cells (ova and sperm) have only 23 chromosomes each. When conception occurs, the new individual has 23 chromosomes from the sperm and 23 chromosomes from the ova, making a total of 46 chromosomes for the new individual. 23 (sperm) + 23 (ova)= new individual (46) How do scientist know all this? OBJ 3: Explain the process of sex determination There are 2 kinds of sex chromosomes: X and Y All ova have one X chromosome. Sperm have either one X or one Y chromosome in each little wriggly fellow. When the sperm and ova combine at conception, sex is determined. If 2 X s are combined, a female results (XX) If an X and a Y combine, a male results (XY) 5

6 OBJ 4: Define alleles and their role in expression of genetic traits Every somatic cell has 22 matched chromosomes and 2 sex chromosomes - except for the reproductive cells. On each matched chromosome, the genes are arranged in the same order on each chromosome. Example of alleles in expression of genetic traits For example, the genes for eye color are located in the same place on each matching chromosome. Each individual s eye color depends on 2 genes-- one gene on each of the matching chromosomes. The genes combine to determine how a given trait will be expressed. The two genes for the same trait are called alleles. 6

7 Matching chromosomes OBJ 5 : Explain dominant and recessive genes A pair of genes or alleles are combined at conception. If a gene is dominant, that means its characteristics will be expressed over any other allele. If a gene is recessive, that means the gene will not be expressed over the other allele for that trait. 7

8 OBJ 6 : Define homozygous and heterozygous The two paired genes or alleles can also be described as : Homozygous the alleles are alike Eg. 2 recessive genes for a trait are homozygous. Heterozygous the alleles are different Eg. 1 recessive and 1 dominant gene would be heterozygous. Homozygous vs Heterozygous Review #1- Match the following 1. Genes 2. Chromosomes 3. Metrocentric 4. Submetrocentric 5. Acrocentric Match these words with the choices in the next slide. There is 1 extra choice 8

9 Matching choices A. Strands of woven DNA B. Centromere is located below the center making 2 long upper arms, and 2 short. C. Chromosomes are structured with 4 arms D. Responsible for an individual s physical characteristics E. Centromere is located in the center of the chromosomes making 4 equal length arms F. Centromere is located so there are 2 short upper arms, and 2 long lower arms. Review #2 - Using the previous slide, tell the numbers of the chromosomes in the karyotype which meet the following description: Example : #1 is metrocentric, so list #1 by Metrocentric. Acrocentric Metrocentric Submetrocentric 9

10 OBJ 7: Define genome and apply to a normal male and female Genome is the actual genetic composition of an individual. It can be expressed as follows: 46XX which would describe normal female 46XY would describe a normal male In other words, the female has 46 total number of chromosomes and 2 X sex chromosomes, and the male 46 total chromosomes with an X and a Y OBJ 8: Define phenotype and give an example of how it is used Phenotype refers to the outward appearance of an individual. In other words, how they appear looks like a male or female. Has apparent sexual characteristics like a male or female. Is short tall - slanted eyeslarge hands, etc. Example: He has the phenotype of a male. OBJ 9: Define genotype and karyotype Genotype refers to the actual genetic composition of an individual Karyotype refers to the display of the number, size and shapes of the chromosomes of a representative body cell. 10

11 Karyotyping Review # 3 - Match the terms on this slide with the definitions on the next slide 1. Genome for a normal male 2. Phenotype 3. Genotype 4. Karyotype 5. Homozygous 6. Heterozygous 11

12 Match these definitions to the terms in the previous slide A. Presentation of the number, size, and shape of a complete set of chromosomes. B. 2 matching alleles. C. Outward appearance of an individual. D. A pair of matching chromosomes. E. Refers to the actual genetic composition of an individual. F. Alleles that are not alike. G. 46XY OBJ 10 : Define the terms describing chromosomal abnormalities Deformities of chromosomes are designated by the following symbols: p = short arm defect q = long arm defect + = an added chromosome - = a missing chromosome Genomes for Chromosomal Abnormalities Write the defect after the sex chromosome designation in a genome as follows: A female with a missing short arm on chromosome 5 would be 46XX5p- A male with an added chromosome at chromosome 21 would be 47XY21+ A female with a long arm added on chromosome14 would be 47XX14q+ 12

13 Review #4 Match the following defects with their genome: (Each defect can have more than one answer) 1. Short arm defect 2. Long arm defect 3. One extra chromosome 4. A missing chromosome A. 46XY5p- B. 47XX13+ C. 45XY22q- D. 45XX0 E. 47XX5p- F. 47XY21 Chromosomal Disorders Patterns of Inheritance 13

14 Mendelian Inheritance Mendelian Inheritance is a pattern which can predict the inheritance of physical characteristics of individuals. It follows a set of orderly rules of inheritance. OBJ 11: Describe the inheritance pattern of Autosomal Dominant pattern and why it is the least prevalent of the disorders These disorders usually affect major body systems and have a grave or fatal prognosis. Thankfully, this makes the dominant pattern the least prevalent. Autosomal Dominant Disorders The disease is expressed in every individual with 1 affected allele. There are no carriers Vertical transmission pattern- 1 of the parents of a diseased child will have the disease. The sex of an affected individual is unimportant in terms of the inheritance. There is usually a history of the disease in other members of the family. 14

15 Autosomal Dominant Disorders Example: Huntington s disease. Result of a dominant diseased gene on chromosome 4. It is a neurologic disorder which is progressive and fatal. There is no cure. Autosomal Dominant Disorders Autosomal Dominant Disorders 15

16 OBJ 12 : Describe the family history and the composition of alleles that make-up the Autosomal Recessive Disorders This is the most prevalent type of Mendelian inherited diseases. It usually involves enzyme or biochemical deficiencies, and can be treated. An individual must have 2 recessive alleles together to manifest the disease. Both parents of the child with the disorder are clinically free of the disease, but are carriers. Autosomal Recessive Disorders The sex of the diseased individual is unimportant in the inheritance pattern. Horizontal transmission pattern- there is no reported history of the disease in either of the parent s families. If parents are heterozygous (only possess one of the diseased alleles) they will not manifest the disease, making no family history of the disorder. However, they will be carriers. Autosomal Recessive Example : Cystic Fibrosis is caused by a gene on the 7 th chromosomes. As many as 1 in 29 Caucasians carry the trait. DNA analysis would reveal the recessive trait and help the parents make a more informed reproductive choice. 16

17 OBJ 12 : List 5 Autosomal Recessive Disorders and explain how the diseases are inherited, noting the frequency of inheritance of disorders in subsequent pregnancies. Other Examples are PKU, Tay-Sachs disease, Sickle cell anemia, and Rh Incompatibility. The inheritance pattern is the same for every pregnancy. In other words, the genes do not mark off the odds on a score card and keep track of what happened with each pregnancy. This is true of all inheritance patterns. Autosomal Recessive inheritance pattern If both parents are heterozygous ( possess only 1 diseased gene each), they will have no disease, but will be carriers. In this situation, there would be no family history upon assessment. Their offspring will have a 1 in 4 chance (25%)of having the disease. They will have 1 in 2 (50%) will be carriers. And 1 child will be healthy. Example follows.. 17

18 Review #5 - Tell the number of children who will be diseased in the following scenario for an autosomal dominant disease 1. A father is healthy and the mother is heterozygous for an D h autosomal dominant disease. What are h the chances of them having a diseased offspring? h D= Diseased gene h= Healthy gene Review #5 continued 2. Both the mother and father are heterozygous for PKU. What kind of transmission pattern is involved with PKU? What is the chance of these parents having a diseased child? h = Healthy D = Diseased h D h D Review #5 cont d 3. If the parents in Question #2 have their first pregnancy yielding a healthy child, what is the chance of their having a healthy child in their second pregnancy? 4. Why are autosomal recessive diseases more prevalent than the autosomal dominant diseases? 5. Could a couple who has no history of autosomal recessive disease in either of their families benefit from genetic counseling? Why? 18

19 Review #5 cont d 6. In this scenario for an Autosomal recessive disorder, answer the following: Number of female offspring: Normal? Carriers? Diseased? Number of male offspring: Normal? Carriers? Diseased? Review #5 7. What are 5 autosomal recessive diseases? X Linked Diseases also called sex-linked diseases 19

20 OBJ13 :Explain the inheritance pattern for both male and female offspring with X Linked Recessive Disorders Example : Hemophilia A - is a clotting factor VIII deficiency. ie. does not make thromboplastin. Incident is 1 in 10,000 males. Only males in the family have the disorder. If they inherit a diseased X from the mother, they will be diseased. The Y chromosome when paired with the diseased X, does not carry enough genetic material to cancel out the diseased gene. So, the male offspring is diseased. X Linked Recessive Disorders Females who are heterozygous ( with one X diseased, the other X is healthy) do not have the disease, but are carriers. The genetic material on the other healthy X is enough to cancel out the disease. Females who are homozygous ( have 2 diseased X s) will abort spontaneously before term. Mothers who are heterozygous will not be diseased, but can pass the diseased X to the son, who will be diseased. X-Linked recessive disorders The Dorque Family 20

21 X-Linked Recessive disorders Mrs. Dorque s sister s family X-Linked Recessive Disorder with the father healthy and the mother heterozygous ( slide 62 ) 21

22 Review #6 1. In the scenario where the father is healthy and the mother is heterozygous, what is the chance of the couple having a healthy female, a healthy male, a healthy child of any sex?( refer to slide #62) 2. In the scenario that a female offspring is homozygous for the diseased X, what would be the outcome? Diseased or Healthy? Review # 6 cont d 3. Why is a heterozygous female a carrier, but a heterozygous male is diseased in recessive sex linked inheritance? 4. Is there always a family history of genetic disorders when a recessive x-linked disorder is expressed in an offspring? Give an example? 5. In the following scenario : a couple has a healthy father and a heterozygous mother for a recessive X-linked disorder, what percentage of male children would be healthy? Diseased? Refer to slide # Tell the frequency of affected children when both parents are heterozygous for an X-linked recessive disease. Number of female: Normal? Carriers? Diseased? Number of male : Normal? Carriers? Diseased? 22

23 OBJ 14: Describe the genetic inheritance pattern for X-Linked Dominant Disorders and determine the frequency of disease expression in both male and female offspring in different scenarios A gene for these disorders is located on the X sex chromosome. Because the gene is dominant, only one X chromosome with the diseased gene will cause the individual to have the disease. If the gene is present, the individual will be diseased. All individuals male or female - will be diseased if they have 1 affected gene. There are no carriers. X-Linked Dominant Disorders The male offspring of an affected dad will not be affected, but 50% are affected from a heterozygous mother. The female offspring are affected by either a diseased mom or dad. All children of a homozygous mother are affected. 50% of all children from a heterozygous women are affected. In the family history, the dominant disorder appears in every generation. X-Linked Dominant Disorders Example : Alport s syndrome It is a disease of progressive kidney failure, and most do not live to reproduce making the disease rare. This is the case with dominant X- linked disorders they are usually more severe but less prevalent. There is frequently family history of the disorder to report. 23

24 Frequency of Inheritance A father who is heterozygous ( having 1 affected X) for a dominant x-linked disorder, will be diseased. If he has a daughter with a healthy mother, the girls will be diseased. If he has a male with a healthy mother, the sons will be healthy. If a father who is disease free has offspring with a heterozygous mom, 50% or 1 in 2 of the daughters will be diseased. And 50% or 1 in 2 of the sons will be diseased. 1. Number of female: Normal? Carriers? Diseased? Number of male : Normal? Carriers? Diseased? Review #7 2. Number of female: Normal? Carriers? Diseased? Number of male : Normal? Carriers? Diseased? Review #7 24

25 Review #7 X-Linked Dominant Xa =Healthy XA = Diseased 3. Number of females: Normal? Carriers? Diseased? Number of males : Normal? Carriers? Diseased? OBJ 15 : Explain the difference between Mendelian inherited diseases and Multifactoral diseases Multifactoral Inheritance Do not follow Mendelian laws. Multifactoral diseases are caused by defects in multiple genes. These diseases may also be affected by environmental factors. Example is Diabetes Mellitus. The disease is affected by the unhealthy eating patterns in a family. The eventual weight gain results in the onset or worsening of the disease. OBJ 16 : Explain how Mitochondrial Inheritance Imprinting can be used to track genetic traits Mitochondria from the ova, may be passed on to the offspring. Because the mitochondria can only be from the mother, they serve as markers for genes which are maternal in origin. Mitochondria can be detected in genetic tests to determine if a gene is passed on by the mother. Imprinting allows us to determine if a genetic disorder comes from the mother or father 25

26 Review #7 : Match each of the inheritance patterns with its unique characteristics ( Each choice may have more than 1 answer) 6. Autosomal dominant 7. Autosomal recessive 8. X-linked dominant 9. X-linked recessive See next slide for matching definitions! Matches for terms listed on previous slide A. Only 1 allele has to be present to have the disease to have the disease in a male or female. B. 2 alleles alike must be present to manifest the disease. C. The disease cannot be passed from a father to a male child. D. A female child who inherits one diseased allele from her father and one healthy allele from her mother will not be diseased Cytogenic Disorders Disorders caused by a fault in the number or structure of chromosomes 26

27 OBJ 17 : Explain the mechanism which created Nondisjunction abnormality such as Down s syndrome or Trisomy s Uneven cell division in meiosis causes a new reproductive cell to have 22 or 24 chromosomes instead of 23. When this cell combines with another reproductive cell at conception, the new individual has 45 or 47 chromosomes instead of 46. Non Disjoining for memory purposes i.e. doesn t separate correctly. Nondisjunction abnormalities Most fetuses with only 45 chromosomes will not live to term. Exception is Turner s syndrome! However, 47 chromosomes allows for adequate genetic information, but creates abnormalities such as Trisomy 21. Mechanism of Nondisjunction 27

28 OBJ 16 : Give examples of Nondisjunction Abnormalities explaining the defective chromosomes and phenotypes Down s syndrome Female with Downs would be 47XX21+. There is also a trisomy at chromosome 13 or 18 Usually associated with maternal age >35 or paternal age >55, which points to the likelihood of uneven meiosis( reproductive cell division ) in the older parents being less efficient. Trisomy 18 Trisomy 21 28

29 Down s Phenotype Other examples of Nondisjunction Turner s syndrome 45 XO. The O is a defective X chromosome. Female phenotype with poorly developed genitalia and are usually sterile. Other characteristics include: short stature, webbed neck, and possible cognitive impairment Klinefelter s syndrome 47XXY. Male phenotype with gynecomastia, underdeveloped male genitalia, and possible cognitive impairment Nondisjunction Karyotypes 29

30 Turner s syndrome Klinefelter s syndrome OBJ 17 : Explain the difference between Nondisjunction and Deletion Abnormalities Deletion Abnormalities are a Form of disorder in which a part of a chromosome breaks off in cell division causing a new individual to be plus or minus a portion of a chromosome. Example: Cri-du-chat also called Cat s cry syndrome. The male would have the genome : 46XY5q- 30

31 Cri-du-chat / 46XY5p- Phenotype of Cri-du-chat Practice : Identify these disorders 31

32 OBJ 18 : Explain the difference between the 2 kinds of Translocation Abnormalities An individual gains an additional chromosome or has 1 chromosome abnormally attached to another. 2 Types: (1) Balanced translocation carrier- is an individual who has 46 chromosomes, but 1 chromosomes is attached at the wrong site. Because the carrier has the correct number total, there is no apparent phenotype. But the offspring are not so lucky. Translocation Abnormalities (2) Unbalanced translocation syndrome is the result of an offspring receiving a sex chromosome from a Balanced trans - location carrier. The result is an individual with 47chromosomes. Phenotype for these individuals is exactly the same as Down s, Trisomy 21 making up about 2% of Downs individuals Genetic screening can identify Balanced translocation carriers preventing this type of translocation. Process of Translocation 32

33 Translocation carrier and possible combinations of translocated chromosomes: 45XY,1(14:21) Balanced Carrier - Unbalanced Syndromes Translocation disorders Robertsonian Translocation OBJ 19 : Define Mosaicism and describe how it can occur Mosaicism occurs when Nondisjunction takes place in mitotic cell division after fertilization. The result is that body cells vary in the total number of chromosomes some 46 or 47. If there is a large percentage of body cells with the abnormal number of chromosomes, the individual is more affected, and has a more pronounced phenotype. Example of a mosaic female with Down s is 46XX/47XX21+ 33

34 Distribution of Mosaicism Cutaneous Mosaicism 34

35 OBJ 20 : Explain the process of formation of Isochromosomes Isochromosomes develop when a cell divides horizontally instead of vertically leaving mismatched chromosomes with long and short arm abnormalities. Some isochromosomes have about the same effect as translocation abnormalities. Turner s syndrome may occur this way. Karyotype of a tumor cell with Isochromosomes 39X with 9 abnormalities Monosomy at -3,4, 10,13,18 Trisomy 7 Subtle Abberations 1q, 8p, 6&23q 35

36 Karyotype for Adenocarcinoma of the lung: 57X0 and 22 abnormalities Testing for Genetic Disorders OBJ 21 : Maternal Serum Alfa- Fetoprotein: describe the procedure, when it can be done, and what disorders are recognized with this test AFP Alpha fetoprotein is a glycoprotein produced by the fetal liver. Done week 15 of pregnancy during routine visit. Is decreased in chromosomal disorders, specifically Trisomy 21. Is elevated more than twice the value of normal in spinal cord defects. Has a 30% rate of false positives. Therefore, positives are followed up with amniotic fluid assessment. 36

37 OBJ 22: Describe the test, when in pregnancy it can be done, and disorders which can be identified by Chorionic Villi Sampling Chorionic villi sampling involves the retrieval and analysis of chorionic villi for DNA analysis. Has no false positives. Done commonly at 8-10 weeks of pregnancy. May be done as early as 5 weeks. Results may be received as soon as the next day. Chorionic Villi Sampling (CVS) Risks : excessive bleeding resulting in pregnancy loss (less than 1%). Infections, uterine contractions or vaginal bleeding. If mom is Rh neg, must receive Rhogam after test. CVS or Chorionic Villi Sampling Not all inherited diseases can be detected by CVS. It works for abnormal chromosomes, Non disjunction, and disorders where the gene location is known. The test does not reveal the extent of spinal cord disorders. Table 7.2 of your text gives details of genetic disorders that can be identified by CVS 37

38 CVS: A catheter is inserted vaginally and chorion is aspirated OBJ 23 : Compare and contrast Amniocentesis and CVS for when it can be done in pregnancy, what disorders can be identified, and the rate of pregnancy loss with the two tests Amniocentesis is the withdrawal of amnionic fluid thru the abdominal wall for analysis at 14 th to 16 th week of pregnancy. Carries a risk of less than.5% of pregnancy loss ( which is better than CVS). Is recommended for the follow up of positive AFP tests. Results of Amniocentesis Results that can be revealed by Amnio include: - Karyotyping the skin cells in the fluid. - AFP and acetylcholinesterace which is used as a double check for false positives of AFP. - Hexosaminidase A will identify Tay- Sachs disease - Fetal lung maturity determined by L-S Ratio 38

39 The Procedure OBJ 24 : Describe post procedural care for CVS and Amniocentesis Observe for about 30 minutes after procedure to determine if the procedure will cause bleeding or uterine contractions. Check Fetal heart tones to make sure there is no fetal distress If Mom is Rh negative, give Rhogam after the procedure to prevent isoimmunization Genetic Counseling A specialty nursing role. The role requires special knowledge of genetics, and a masters in nursing. Jobs are found in conjunction with genetic testing centers. Usually couples seek genetic counseling after they have had an affected child. 39

40 OBJ 25 : Describe the nursing process in genetic counseling Assessment involves taking a family history, Physical assessment of parents and affected children, assistance with lab tests and interpretations of data. (See table 7.1 in text for specific characteristics of newborns with genetic disorders) Analysisusually involves decisional conflict and knowledge deficits. Other Nursing diagnoses are listed in the text. Outcomes involve goals that are realistic and consistent with the couple s life style. Nursing process Implementation : Provide information about testing and genetic disorders. Results should be related ASAP after testing. Support people affected to make informed reproductive decisions. May involve grief counseling, or some parents may experience loss of self esteem. Maintain confidentiality in informing appropriate people. Identify support organization Nursing Process Evaluation usually successful if the couple feels they have coped with disorder, understand the possibility of future pregnancies resulting in additional genetic disorders. 40

41 41

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