Please help answer question 1What would a pedigree of Greg and Olga’s families look like? Concentrate simply on family relationships and aff ected persons. NATIONAL CENTER FOR CASE STUDY TEACHING IN SCIENCEIn Sickness and in Health:A Trip to the Genetic CounselorbyBarry ChessNatural Sciences DivisionPasadena City College, Pasadena, CAPart Pedigree ConstructionGreg and Olga were both a little worried. Starting a family presented choices and responsibilities far more long-reaching and complex than anything either of them had encountered before, and sitting here in the reception areaof the genetic counselor's office they were beginning to feel the pressure. They had met four years earlier in thehemophilia clinic where Greg was waiting for his brother Jeff to get an injection of factor VIII, a protein that helpsthe blood to clot. When a person's factor VIII level is very low (less than 1% of normal), even the smallest cuts can betroublesome and uncontrolled internal bleeding is common. Complications include swelling, joint damage, and anincreased likelihood of neurological complications due to intracerebral bleeding. Even simple surgical procedures suchas tooth extractions become far more risky. Jeffs condition was noted by his pediatrician shortly after birth when hiscircumcision bled profusely. Since then, Jeff has received monthly injections of factor VIII, either at home or (twice ayear) at a clinic where his physical condition is reviewed by a physician's assistant. At first these injections containedclotting factor isolated from the blood of human donors but, for the last 10 years or so, he has received recombinantclotting factor, which is genetically engineered.It was in that clinic waiting room that Greg struck up a conversation with Olga, who was waiting for her uncle tofinish his exam and receive an injection of clotting factor. Like Jeff, Olga's uncle also suffered from hemophilia A dueto factor VIII deficiency. Beginning with this common experience, Jeff and Olga quickly fell in love and were marriedthe following year.They are now thinking about starting a family of their own, but are concerned about the risks of passing on geneticdiseases to their children. They know for example that hemophilia A is an inherited disease, and several of Greg'srelatives suffer from myotonic dystrophy, a muscle weakening disease that also runs in families.As a first step, the genetic counselor has asked them to fill out a narrative history listing their relatives, relationships,and if they were affected by any genetic diseases that they know of. The forms are seen below.NAME: GregI have one brother and one sister, neither of whom are married. My brothersuffers from factor VIII deficiency, but no one else in my family does. Mymother has two brothers and one sister. One of my uncles and one of my auntsare affected by myotonic dystrophy. My affected aunt married an unaffectedman and they have a young seemingly unaffected daughter. My other uncle isunaffected, as is my mother. Our primary care doctor has said that becauseboth my mother and unele are over fifty years old and show no symptoms, theydo not have the disease. My father is completely normal. He was adopted froman orphanage and nothing is known about his family. My maternal grandmotherwas an only child who also suffered from myotonic dystrophy. Her husband (mygrandfather) was one of seven children (four boys and three girls). No one in thefamily seems to know much about the health status of my grandfather or hisbrothers. Both of my parents are alive but all of my grandparents are deceased."In Sickness and in Health" by Barry ChessPage 1 NATIONAL CENTER FOR CASE STUDY TEACHING IN SCIENCENAME: OlgaI have two brothers, one of whom has factor VIII deficiency. The brotherwith the disease is married to a woman who does not have the disease.They have two young boys, both normal. My father is an only childwho does not suffer from anything and his parents also are onlychildren who do not suffer from any diseases. They are all still living.My maternal grandmother is healthy and had a sister who died justafter birth. She married my grandfather who was one of four children,all boys, none of whom were affected by any disease that anyone isaware of. My grandparents had two children, my mother and my uncle.My uncle has hemophilia but my mom doesn't. My uncle married myaunt (who is unaffected) and they had two children, neither of whomshowed any sign of any disease. Their boy is still single but their girlgot married, to a normal man, and had a son, who has hemophilia A."Good afternoon" said the woman rising to greet them, "I'm Dr. Ciletti. It's good to finally meet you in person.""Nice to finally put a face to the voice. I'm Greg and this is my wife Olga.""Nice to meet you," Olga said, taking a seat across the desk from Dr. Ciletti. "This whole having-kids thing is morenerve-wracking when you really start to think about it.""You're doing exactly the right thing. There is no sense in worrying about things unless you have to. Maybe I canset your mind at ease a little bit. To begin with, I know that you're both concerned about factor VIII deficiency andmyotonic dystrophy because of the family history. Is there anything else that you'd like to know?""Well," began Olga, "the fact that we both have these diseases in our family and there is a chance that we could passthem on to our children has opened our eyes a little bit, but we'd also like to know if you can predict other diseasesthat don't run in our family. Like my best friend in high school had cystic fibrosis and she died when she was onlytwenty four, and was sick almost all the time.""Okay, well, cystic fibrosis doesn't look like it is in either of your family histories so it's probably not worth worryingabout. But, we can spend a little time going over the chance that you both carry a gene that has never before shown itsface. The first step is we have to convert the family information you two have provided into a graphical representationcalled a pedigree. From there we can begin to correlate family relationships with the appearance of specific diseases."Question1. What would a pedigree of Greg and Olga's families look like? Concentrate simply on family relationshipsand affected persons.ReferenceHuman Genetics for First Year Students: Pedigree Constructionhttp://www.uic.edu/classes/bms/bms655/lesson3.html"In Sickness and in Health" by Barry ChessPage 2

Name: Please help answer question 1What would a pedigree of Greg and Olga’s
Uploaded: 2024-03-20T06:43:04.000Z
Channel: Bartleby
Description: Please help answer question 1What would a pedigree of Greg and Olga’s families look like? Concentrate simply on family relationships and aff ected persons. NATIONAL CENTER FOR CASE STUDY TEACHING IN SCIENCEIn Sickness and in Health:A Trip to the Gene