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Groups for Genetics Group #1 DeCoste, Victoria MacDonald, Mary Denaro, Chelsea Sibley, Nicole Allen, Jasmine Croft, Lauren Mombourquette, Shelbie Group #4 Roach, Christian Downey, Erica Carroll, Kathleen Myers, Jamie Festeryga, Deirdre Mattie, Joni Group #7 Maciel, Analiese Smith, Shannalee Murphy, Jillian Taylor, Emma Hughes, Tanner Redden, Julie Group #2 Gillis, Carly Douglas, Patti Visentin, Christina Smith, Jennifer Downing, Allison Thompson, Mary Catherine Group #3 Bernas, Alex MacDonald, Brittany Williams, Kailyn Baisley, Ashley Burns, Laura Stevenson, Mason Group #5 Savary, Murphy Smith, Maggie Schofield, Katelyn Gougeon, Felipe Gillis, Erin Clarke, Lauren Group #8 Poirier, Baillie Hum, Katherine Johnson, Christeen Eisan, Brianna Hingston, Olivia Cunningham, Cassy Group #6 Gillis, Kenzie Fraser, Kayla Davis, Savannah Gillis, Heather MacAulay, Alyssa Piché, Angela Group #9 Burke, Carrie MacDougall, Abbey Berry, Rachel McLellan, Bailey Corcoran, Courtney Livingstone, Annie 300/330 - appleby 1 Patterns of Genetic Inheritance Rels 300 / Nurs 330 7 January 2016 GENES ON CHROMOSOMES 23 pairs of chromosomes • 1 out of each pair comes from maternal ovum • 1 out of each pair comes from paternal sperm • 22 are matched pairs • x and y are sex chromosomes • males have 1 x and 1 y • females have 2 x’s 300/330 - appleby 3 X-LINKED INHERITANCE Examples of X-linked recessive disorders: Fragile X; Hemophilia; Muscular Dystrophy Examples of X-linked dominant disorders: Rett syndrome (very rare) The mother has 2 X chromosomes • her ova will have either an unaffected gene OR an affected gene The father has one X and one Y chromosome • his sperm will have either an X or a Y chromosome 300/330 - appleby 4 Fragile X syndrome Common traits & symptoms: • Mild to severe intellectual disabilities • Emotional and behavioural problems What does it look like? https://public.ornl.gov/site/gallery/originals/ChromX.jpg • A male child inherits an X from his mother and a Y from his father; if the X is fragile, he will be affected • A female child inherits an X from her father and another X from her mother (who has 2 Xs) • A girl (who has 2 Xs) may have one normal X and one fragile X; not likely to be affected • If a girl inherits 2 fragile Xs, she will be severely affected 300/330 - appleby 5 Females have an X chromosome from father and an X chromosome from mother; Males have an X and a Y chromosome 6 Turner’s Syndrome & Klinefelter’s Syndrome Turner’s Syndrome: • affects 1 in 3000 girls • 1 (or part of one) of the X chromosomes is missing • only 45 chromosomes total Klinefelter’s Syndrome: • affects 1 in 700 boys • extra X chromosome (XXY) - 47 chromosomes 300/330 - appleby 7 RECESSIVE PATTERN INHERITANCE Recessive pattern illnesses: sickle cell; Tay-Sachs; hemochromatosis; thalassemia; PKU; PKD Cystic fibrosis: defect in a gene located on chromosome 7 (https://public.ornl.gov/site/gallery/originals/Chrom07.jpg ) • pulmonary and gastrointestinal disease • if neither mother nor father have cystic fibrosis, they may still be carriers of 1 faulty gene • if only mother or father have 1 faulty gene, then no child will have cystic fibrosis; but child may still be carrier of disease 300/330 - appleby 8 Recessive Inheritance 300/330 - appleby 9 DOMINANT PATTERN INHERITANCE Dominant pattern illnesses: Marfan; neurofibromatisis; Alzheimer Huntington’s disease: a degenerative neurological disorder • faulty gene on chromosome 4 (https://public.ornl.gov/site/gallery/originals/Chrom04.jpg) • if mother or father have 1 faulty gene, she or he WILL develop Huntington’s disease – but not until age 40 – 50 • if affected parent passes on faulty gene, then child will also be affected 300/330 - appleby 10 300/330 - appleby 11 CHROMOSOMAL ABNORMALITIES Kinds of abnormalities: • part or all of a single chromosome may be missing • numerical abnormality - a sperm or ovum may have an extra chromosome (24) or lack a chromosome (22), e.g. Turner Syndrome • Extra chromosome material, e.g. Down Syndrome (Trisomy 21) [https://public.ornl.gov/site/gallery/original s/Chrom21.jpg ] 300/330 - appleby • structural abnormality rearrangement or loss of genetic material • e.g., deletions, duplications, inversions, ring formations and translocations of chromosome sections • Fragile X syndrome - a weakened or fragile site on the X chromosome [https://public.ornl.gov/site/gallery /originals/ChromX.jpg ] 12 300/330 - appleby 13 Examples of Genetic Conditions & Diseases Condition Pattern of Inheritance Affected Gene(s) Symptoms & Incidence Testing & Screening Fragile X Syndrome Cystic Fibrosis D / B Muscular Dystrophy Down Syndrome Alzheimer Disease: Sporadic Familial 300/330 - appleby 14 Ethical Issues: Privacy and Confidentiality • If you have a history of Huntington’s Disease in your family, should you have genetic testing to see if you will develop the illness? • If you do have genetic testing, should you tell your siblings or partner the results of your testing? • Should you be forced to submit to prenatal genetic testing before you decide to have children? YES NO UNDECIDED 300/330 - appleby 15 Ethical Issues: Insurability • If you are applying for life insurance, and you have a history of breast or ovarian cancer in your family, should you be compelled to have genetic testing for the BRCA1 or BRCA2 genes? • If you have had this testing, must you tell the company? • May they deny life insurance to you? • Should life insurance companies have access to your genetic information? YES NO 300/330 - appleby UNDECIDED 16 Ethical Issues: Employability • Should an employer have the right to know your family history, including genetic disease, prior to offering you employment? • Should an employer have the right to deny employment to someone with a susceptibility to a genetic condition? • Should employers have access to your genetic information? YES NO 300/330 - appleby UNDECIDED 17 Ethical Issues: Childbearing • Should all pregnant women have prenatal testing? • If a woman decides to continue a pregnancy involving a fetus with a genetic disorder, should she consider aborting the fetus? • If she continues with the pregnancy, should she expect social supports in caring for an affected infant and child? YES NO UNDECIDED 300/330 - appleby 18 Take another look at your list of genetic conditions & diseases: Which of these ethical issues would be of concern to a person with the genetic condition you have investigated: • Privacy and Confidentiality • Insurability • Employability • Childbearing What additional ethical issues or dilemmas might you expect to face if you were living with a diagnosed genetic condition? 300/330 - appleby 19 • Class notes continued on slides for January 13th 300/330 - appleby 20