Term
| What is PKU (phenylketonuria)? |
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Definition
| A genetic disease is which the person has elevated phenylalanine levels. It is autosomal recessive. |
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Term
| What health effects does PKU cause? |
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Definition
| Elevated levels of phenylalanine interfere with brains development and can cause retardation, seizures, destructiveness, and/or restlessness. |
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Term
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Definition
| PKU is treated by giving the child a special diet low in phenylalanine, and feeding the baby a special formula. |
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Term
| If a women and a man are heterozygous for PKU, what are the chances that their kid will have PKU? What are the chances that their kid will be a carrier? What are the chances that their kid will be homozygous dominant? |
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Definition
PKU- 25%
PKU carrier-50%
Homozygous dominant- 25% |
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Term
[image]Fill in the pedigree assuming that this is for a family with Abilism. Remember that Ablinism is autosomal recessive and that not all the people's genotypes will be able to be determined. |
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Definition
First generation (left to right): aa, Aa
Second generation (left to right): aa,Aa,Aa,AA(could be Aa, but mostly likely AA),aa,Aa,Aa,aa
Third Generation: aa,Aa,A?,A?,A?,aa,Aa,aa,Aa |
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Term
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Definition
| Hemophilia is a sex-linked disorder carried on the X chromosome. It causes a deficiency of Factor VIII which makes it hard for the person's blood to clot. |
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Term
| How is a person with Hemophilia treated? |
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Definition
| Hemophilia is treated by giving the hemophiliac Factor VIII infusions which help their blood clot. They can also have joint replacements if arthritis becomes severe and exercise daily to build up muscle to protect weak bones. |
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Term
| What health problems does Hemophilia cause? |
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Definition
| Hemophilia causes the blood to not clot. This makes a hemophiliac be more at risk for dying from blood loss. When a hemophiliac gets a cut, the blood doesn't clot quickly, |
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Term
| If a man with hemophilia and a woman without hemophilia, whose mother was a hemophiliac, had two daughters, what are the chances that both daughters will be completely healthy (not carriers)? |
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Definition
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Term
| True or false: Alcoholism is often found in several generation of families. |
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Definition
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Term
| True or False: Multiple genes contribute to alcoholism. |
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Definition
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Term
| What are the 2 categories of Alcohol related disorders? |
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Definition
| Alcohol abuse and Alcohol dependence (alcoholism) |
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Term
| What happens to the risk of delivering a child with Down syndrome as a woman ages? |
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Definition
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Term
| In down syndrome, which chromosome is affected and how? |
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Definition
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Term
| Drinking Alcohol while pregnant can affect the baby in what ways? |
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Definition
| Can cause the baby to have FASD, down syndrome, unnatural facial features (small head, flat midface, low nasal bridge, smooth philtrum, etc.) |
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Term
| Describe Chronic Villi Sampling (CVS) |
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Definition
| Happens during the first trimester. Chorionic villi (fetal cells) are scraped off and suctioned. 1% death rate. Cells and Chromosomes studied. |
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Term
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Definition
| 11th-18th week of pregnancy. Amniotic and shed fetal cells obtained. .5% death rate. Chromosomes studied. |
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Term
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Definition
| Can be used throughout pregnancy. Only fetal anatomy is examined. |
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Term
| What is familial hypercholesterolemia (FH)? |
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Definition
| It is an autosomal dominant disorder which affects gene 19 making the body unable to remove LDL(a type of cholesterol). |
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Term
| What health effects does FH cause? |
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Definition
| Causes LDL to build up which can cause a heart attack. |
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Term
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Definition
| Treated with long term dietary and drug treatment. |
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Term
| If a male who was homozygous recessive for FH and a woman who was homozygous dominant for FH had a kid, what are the chances that the kid would have FH? |
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Definition
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Term
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Definition
| Fragile X is when someone has a defected gene on the X chromosome. It is recessive and x-linked. It causes mental retardation. |
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Term
| How many base pairs does to human genome contain? |
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Definition
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Term
| RFLPs are used as a form of ________ testing? |
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Definition
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Term
| What is paternal testing? |
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Definition
| Testing DNA fragments of the kid(s) and the parents to see if both the parents actually gave birth to that kid. |
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Term
| [image]In which test is the child really the kid of the mom and dad? |
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Definition
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Term
| Name some of the fetal effects of smoking. |
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Definition
| Reduced blood flow, low birth weight, 30% higher death rates, more prone to infections. |
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Term
| What are the differences of fraternal twins versus identical twins? |
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Definition
Fraternal Twins- Two placentas, two chorionic membranes
Identical twins- Single placenta, single chorionic membrane |
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Term
| What is a neural tube defect (NTD)? |
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Definition
| One of the most common defects in the US. Makes the spine in develop properly. Spine becomes "open". Death assured. |
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Term
| What are the fetal effects of cocaine? |
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Definition
| Reduced blood flow, small head, brain hemorrhage, premature birth, seizures |
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Term
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Definition
| It is a defect which causes a red blood cell deficiency. Autosomal recessive |
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Term
| In which ethnicities if B-thalassemia most common? |
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Definition
| African decent, Mediterranean decent, and Southeast Asian decent. |
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Term
| What is the treatment for B-Thalassemia? |
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Definition
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Term
| What health problems does B-thalassemia cause? |
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Definition
| Early heart and spleen disease. |
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Term
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Definition
| This is a defect in which a faulty gene causes mucus to build up in the lungs which may become infected. Autosomal Recessive |
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Term
| What are the health effects of Cystic Fibrosis? |
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Definition
| Early death is caused by lung damage. Problems with intestines, pancreas, and liver. Infertility may result. |
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Term
| What are the treatments for Cystic Fibrosis? |
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Definition
| Transplants, chest thumping, and antibiotics |
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Term
| If a woman with CF and a man who is homozygous dominant for CF have 4 kids, what are the chances that they will all be carriers of CF? |
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Definition
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Term
| What is Huntington's disease? |
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Definition
| It a defect in which a misshapen gene (#4) causes the death of nerve cells in the brain. Autosomal dominant |
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Term
| When do the signs of HD show? |
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Definition
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Term
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Definition
| Doctors see how many CAG triplets you have. If it is 11-30, you're fine. If it is more than 30, you might have HD. |
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Term
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Definition
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Term
| If a man who is heterozygous of HD and a woman who doesn't have HD have kids, what are the chances that all of their kids will be healthy? 2 healthy? 1 healthy? 0 healthy? |
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Definition
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