Term
| Method of separating molecules based on movement through a gel placed in an electric field? |
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Definition
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Term
| technique for detecting specific DNA sequences using restriction enzymes and a radiolabeled DNA probe |
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Definition
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Term
| Technique for detecting specific RNA sequences using restriction enzymes and a radiolabeled DNA probe? |
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Definition
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Term
| Technique for detecting specific protein sequences using radiolabeled antibodies? |
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Definition
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Term
| Rapid technique for amplifying a specific DNA sequence in vitro? |
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Definition
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Term
| Technique for detecting the presence of antigen or antibody using radiolabeled antibodies? |
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Definition
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Term
| Technique for detecting the presence of antigen or antibody using antibodies linked to enzymes with detectable activity |
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Definition
| ELISA - enzyme linked immunosorbent assay |
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Term
Inheritance patterns:
1. 25% of offspring from 2 carrier parents are affected?
2. commonly causes defects in structural genes?
3. commonly causes defects in enzymes?
4. defect seen in multiple generations in both sexes?
5. defects not typically seen in consecutive generations? |
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Definition
1. auto recessive (AR)
2. auto dominant (AD)
3. AR
4. AD
5. AR |
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Term
What is the inheritance pattern?
1. disease not seen in females?
2. disease transmitted by mom?
3. half of male offspring from affected mother will manifest the disease?
4. disease manifestations commonly present after puberty? |
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Definition
1. x-linked recessive
2. mitochondrial inheritance
3. XL recessive
4. AD |
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Term
| What are the conditions for a population to be in Hardy Weinburg? |
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Definition
1. no mutation at locus of interest
2. no selection for allele at locuse of interest
3. random mating
4. closed population |
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Term
| What are the 2 hardy weinburg equations? |
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Definition
1. p^2 + 2pq + q^2 = 1
2. p + q = 1 |
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Term
| lack of tyrosinase leading to a lack of melanin |
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Definition
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Term
| Lack of homogentisic acid oxidase leading to a build up of homogentisate, causing darkening of the urine and CT? |
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Definition
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Term
| lack of phenylalanine hydroxylase (PAH) leading to a buildup of phenylalanine resulting in mental retardation, hypopigmentation, eczema, and mousy odor? |
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Definition
| phenylkeotnuria, deficiency of BH4 (cofator of PAH) |
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Term
| Inadequate catabolism of branched chain amino acids (Ile, Val, Leu) due to lck of alpha-ketoacid dehydrogenase leading to mental retardation? |
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Definition
| maple syrup urine disease |
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Term
| Defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine? |
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Definition
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Term
| Innapropriate accumulation of glycogen in skeletal muscle fibers due to a deficiency of glycogen phosphoyrlase, leading to myalgia and myoglobinuria with exercise? |
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Definition
| McArdle disease/type V glycogen storage disease |
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Term
| Innapropriate accumulation of glycogen in the liver, ehart, and muscle caused by deficiency of lysosomal alpha-1,4-glucosidase, resulting in cardiomegaly? |
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Definition
| Pompe disease/type II glycogen storage disease |
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Term
| Inappropriate hepatocellular accumulation of glycogen caused by a deficiency of G6P associated with severe fastng , hypoglycemia, lactic acidosis, hyperlipidemia, and impaired fructose metabolism? |
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Definition
| von Gierke disease/type I glycogen storage disease |
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Term
| Hemolytic anemia due to deficiency of glycolysis? |
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Definition
| hexokinase, glucose-phosphate isomerase, aldolase, trios-phosphate isomerase, phosphate glycerate kinase, enolase, or pyruvate kinase deficiencies |
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Term
| Hemolytic anemia in patients of Mediterranean descent after eating fava beans or taking antimalarial medication? |
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Definition
| G6P dehydrogenase deficiency |
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Term
| Lactic acidosis and neurologic defecits in an alcoholic? |
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Definition
| Pyruvate dehydrogenase deficiency |
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Term
| Deficiency of lactase cauing bloating, flatulance, and diarrhea on consumption of dairy products? |
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Definition
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Term
| Lack of glactose-1-phosphate uridyltransferase causing cateracts, hepatosplenomegaly, mental retardation?q |
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Definition
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Term
| Lack of fructokinase causing fructosemia and furctosuria? |
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Definition
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Term
| lack of aldolase B causing hypoglycemia, jaundice, and cirrhosis? |
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Definition
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Term
| lack of UV specific endonuclease causing dry skin and malignant melanoma? |
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Definition
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Term
Name the disease:
1. cherry red spot of the macula?
2. cells containing "crinkled paper" cytoplasm and glycolipid-laden macrophages?
3. corneal clouding? |
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Definition
1. Tay sachs and Niemann Pick
2. Gaucher disease
3. Hurler syndrome |
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Term
| Auto recessive deficiency of UDP-N-acetylglucosamine:N-actelyglucosaminyl-L-phosphotransferase, loss of protein tagging with mannon-6-phosphate, leading to defective trafficking of enzymes into lysosomes and developmental delay and coarse facial features? |
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Definition
| I cell disease - mucolipidosis type II |
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Term
| auto recessive deficiency of alpha-1-iduronidase, leading to accumulation of partially degraded GAG's withing lysosomes resulting in dysmorphic, gargoyle like facies, corneal clouding, hepatosplenomegaly and skeletal abnormalities? |
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Definition
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Term
| XL recessive deficiency of iduronate sulfatase leading to accumulation of heparain and dermatan sulfate resulting in mental retardation, coarse facial features and short stature? |
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Definition
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Term
| Auto recessive deficiency of arylsulfatase A leading to a accumulation of cerebroside sulfate and dysfunction and demyelination of CNS and PNS giving ataxia and dementia? |
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Definition
| Metachromatic leukodystrophy |
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Term
| auto recessive deficiencey of hexosaminidase A on chromosome 18 leading to accumulation of GM2, ganglioside withing lysosomes leading to neuro degeneration and developmental delay and cherry red spot on the macula? |
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Definition
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Term
| Auto recessive deficiency of sphingomyelinase on chromosome 11 leading to build up of shingomyelin and Chl in histiocytes of the liver, spleen and lymphatic system, resulting in cortical atrophy, cherry red spot on macula and hepatosplenomegaly? |
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Definition
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Term
| auto recessive deficiency of B glucocereborsidase leading to accumulation of glucocerebroside in the brain,bone marrow, spleen and leads to hepatosplenomegaly, aseptic necrossis of the femur, and neuro dysfunction |
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Definition
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Term
| auto recessive deficiency of galactosylceramide B galactosidase leading to cerebral accumulation of galactocerebroside causing progressive neuro degeneration? |
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Definition
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Term
| XL recessive deficiency of alpha-galactosidase A giving a build up of ceramide trihexoside which causes pain in the extremeties, angiokeratomas, and cardiovascular disease and renal failure? |
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Definition
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Term
| expansion of unstable region of the X chromosome (abnormal FMR1 gene with CGG expansion) leading to mental retardation, enlarged testes, and craniofacial anomalies? |
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Definition
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Term
| Trisomy 21 - mental retardation, slanted palpebral fissures, hypertelorism, macroglossia, atrial septal defect, duodenal atresia, early onset Alzheimers, multiple visceral anomalies? |
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Definition
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Term
| Lack of hyoxanthine-guanine phosphoryltransferase (HGPRTase) causing overproduction of uric acid leading to neuro defects, hyperuricemia, and behavioral abnormalities including self mutilation |
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Definition
| Lesch-Nyhan Syndrome (Lacks Nucleotides Salvage) |
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Term
| Lack of adenosine deaminase inhibits DNA synthesis by causing the accumulation of metabolites in the purine salvage paths, one of the causes of SCID? |
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Definition
| Adenosime deaminase deficiency |
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