تويت
مشاركة حلوة ....................................حاتكون احلي بوجود الاسئلة اللي حااهديها ليكم دي
Final mock exam
Click on the answers you think are correct an then click on the submit button to receive your score.
1. Zellweger syndrome, Refsum disease and adrenoleukodystrophy are all characterized by deficits in which of the following cellular organelles?
Mitochondria
Golgi apparatus
Ribosomes
Peroxisomes
Glyoxisomes
2. The brother of a boy with severe Gaucher disease seeks advice regarding marrying a second cousin. How would you advise him regarding their risk of having affected offspring together?
Tell him they can have prenatal diagnosis for the condition
Tell him her risk of being a carrier is low since she has no affected sibs
Advise them to have carrier testing to assess their risks
Advise them to adopt or have artificial insemination via donor
Tell him the condition is now treatable with exogenous enzyme
3. Choose which of the following conditions is not screened for in New Jersey:
Urea cycle disorders
Galactosemia
Hypothyroidism
Phenylketonuria
Hemoglobin C disease
4. For autosomal recessive conditions, which of the following statements is incorrect with regards to Hardy-Weinberg Equilibrium?
the frequency of the disease is the square root of the gene frequency
the frequency of the heterozygous carrier is equal to twice the product of the component gene frequencies
for rare diseases, the frequency of heterozygous carriers is approximately equal to 2q
almost all of the mutant genes in the population for a rare recessive disease are carried in heterozygotes
for rare recessive disease, the heterozygote frequency is far greater than the frequency of homozygotes with the disease.
5. A woman who is 35 years old has a DNA test for the Huntington's Disease gene ordered by her physician. She has no symptoms of HD but her mother and brother are both diagnosed with HD. Her results indicate that her CAG repeat alleles are 42 and 17. What is the most likely interpretation of this test result?
She has a clinical diagnosis of HD.
She does not have the common allele for HD.
She has the common allele for HD.
She does not have HD in her family and another diagnosis must be sought.
She has a premutation for the HD allele.
6. The harmful effects of prenatal alcohol exposure are restricted to which weeks of pregnancy?
0-2 weeks embryologic age
4-10 weeks by LMP
4-20 weeks by LMP
4-30 weeks by LMP
4-40 weeks by LMP
7. Which one of the following statements concerning the maternal phenylketonuria (PKU) syndrome is false? w:The majority of offspring of mothers with untreated classic PKU have microcephaly and mental retardation.
Affected children may have low birth weight.
The syndrome results from untreated PKU in the mother during the pregnancy.
Is found principally in fetuses who also have PKU.
Affected children may have severe heart defects.
8. A couple wants to begin a pregnancy and asks you about recurrence risks for pyloric stenosis. You remember the multifactorial threshold model shows a higher risk threshold for females. You are able to be most reassuring and predict the lowest risk for:
A male relative of a male patient
A female relative of a male patient
A male relative of a female patient
A female relative of a female patient
9. Retroviral vectors are called "helper-free" when the following condition(s) is(are) met:
no further help is needed to express the gene of interest.
the retroviral vector particles released from the helper cell are not contaminated with replication competent retroviruses.
the helper virus is free of protein coding sequences
the retroviral vector particle is free of the retroviral enzyme reverse transcriptase.
the retroviral vector system is free of problems.
10. Choose the BEST description for the following observations: A greater proportion of non-Jewish gene carriers for Dystonia actually have the disease.
Penetrance
Expressivity
Penetrance and expressivity
Trinucleotide expansion
Expressivity and Trinucleotide expansion
11. Choose the BEST description for the following observations: In Neurofibromatosis, individuals are likely to be clinically affected by the time they are 5 years old, but it may take considerable clinical acumen to determine this.
Penetrance
Expressivity
Penetrance and expressivity
Trinucleotide expansion
Expressivity and Trinucleotide expansion
12. Tumor suppressor genes are usually thought of as:
dominant in nature, acting to promote cell growth and/or proliferation.
dominant in nature, acting to prevent excessive cell growth and proliferation.
recessive in nature, acting to suppress cell growth and proliferation
recessive in nature, acting to promote cell growth and proliferation
acting in either a dominant or recessive manner, to suppress cell growth regulation.
13. Changes in protein kinase activity are:
almost never seen as the result of oncogene activation.
often seen as a result of cellular oncogene activation, and most often affects serine amino acids in the target proteins.
often seen as a result of cellular oncogene activation and often results in changes to tyrosine amino acids in the target proteins.
often seen as a result of cellular oncogene activation, but never results in alterations in either serine or tyrosine amino acids in target proteins.
of little importance in evaluating the malignant potential of any tumor.
14. On DNA analysis of the breakpoint cluster region a patient showed probe positive bands which were 6.3, 5.0 and 4.0 kb in length. Control cells showed a single band at 5.0 kb. These results indicate that the patient:
was suffering from neuroblastoma
was negative for CML
was positive for Burkett's lymphoma
was positive for CML
none of the above
15. Which of the following qualities BEST describes a cost-effective newborn reening program? (choose best answer)
The disorder must be common, there must be a medical benefit to early diagnosis and there must be a test with no false positive results
The disorder must be curable by early treatment, the disorder must be common and the test must be inexpensive
Centers for treatment must be in place, early treatment must be shown to be beneficial and a test with acceptable false positive rate must be available
The test must have few false negatives, be cheap and test for a disorder with a specific curative treatment
16. All of the following are absolute indications to refer a prenatal patient to genetics EXCEPT:
Either parent is a carrier of a balanced chromosomal rearrangement
Parental consanguinity
History of one prior pregnancy ending in miscarriage
Family history of cystic fibrosis
17. You are called to see a 24 hour old, full term, male infant who is lethargic, hypotonic and tachypneic (breathing rapidly). The mother is a 32 year old white woman whose previous baby son died at 3 days with similar symptoms. She has one normal so n aged 3 years. Which of the following biochemical tests would you order first?
Mother's anti-D IgG levels (measure of Rh incompatibility)
Infant's hemoglobin electrophoresis
Infant's plasma ammonia level
Infant's sweat chloride level
Infant's plasma phenylalanine level
Final mock exam
Click on the answers you think are correct an then click on the submit button to receive your score.
1. Zellweger syndrome, Refsum disease and adrenoleukodystrophy are all characterized by deficits in which of the following cellular organelles?
Mitochondria
Golgi apparatus
Ribosomes
Peroxisomes
Glyoxisomes
2. The brother of a boy with severe Gaucher disease seeks advice regarding marrying a second cousin. How would you advise him regarding their risk of having affected offspring together?
Tell him they can have prenatal diagnosis for the condition
Tell him her risk of being a carrier is low since she has no affected sibs
Advise them to have carrier testing to assess their risks
Advise them to adopt or have artificial insemination via donor
Tell him the condition is now treatable with exogenous enzyme
3. Choose which of the following conditions is not screened for in New Jersey:
Urea cycle disorders
Galactosemia
Hypothyroidism
Phenylketonuria
Hemoglobin C disease
4. For autosomal recessive conditions, which of the following statements is incorrect with regards to Hardy-Weinberg Equilibrium?
the frequency of the disease is the square root of the gene frequency
the frequency of the heterozygous carrier is equal to twice the product of the component gene frequencies
for rare diseases, the frequency of heterozygous carriers is approximately equal to 2q
almost all of the mutant genes in the population for a rare recessive disease are carried in heterozygotes
for rare recessive disease, the heterozygote frequency is far greater than the frequency of homozygotes with the disease.
5. A woman who is 35 years old has a DNA test for the Huntington's Disease gene ordered by her physician. She has no symptoms of HD but her mother and brother are both diagnosed with HD. Her results indicate that her CAG repeat alleles are 42 and 17. What is the most likely interpretation of this test result?
She has a clinical diagnosis of HD.
She does not have the common allele for HD.
She has the common allele for HD.
She does not have HD in her family and another diagnosis must be sought.
She has a premutation for the HD allele.
6. The harmful effects of prenatal alcohol exposure are restricted to which weeks of pregnancy?
0-2 weeks embryologic age
4-10 weeks by LMP
4-20 weeks by LMP
4-30 weeks by LMP
4-40 weeks by LMP
7. Which one of the following statements concerning the maternal phenylketonuria (PKU) syndrome is false? w:The majority of offspring of mothers with untreated classic PKU have microcephaly and mental retardation.
Affected children may have low birth weight.
The syndrome results from untreated PKU in the mother during the pregnancy.
Is found principally in fetuses who also have PKU.
Affected children may have severe heart defects.
8. A couple wants to begin a pregnancy and asks you about recurrence risks for pyloric stenosis. You remember the multifactorial threshold model shows a higher risk threshold for females. You are able to be most reassuring and predict the lowest risk for:
A male relative of a male patient
A female relative of a male patient
A male relative of a female patient
A female relative of a female patient
9. Retroviral vectors are called "helper-free" when the following condition(s) is(are) met:
no further help is needed to express the gene of interest.
the retroviral vector particles released from the helper cell are not contaminated with replication competent retroviruses.
the helper virus is free of protein coding sequences
the retroviral vector particle is free of the retroviral enzyme reverse transcriptase.
the retroviral vector system is free of problems.
10. Choose the BEST description for the following observations: A greater proportion of non-Jewish gene carriers for Dystonia actually have the disease.
Penetrance
Expressivity
Penetrance and expressivity
Trinucleotide expansion
Expressivity and Trinucleotide expansion
11. Choose the BEST description for the following observations: In Neurofibromatosis, individuals are likely to be clinically affected by the time they are 5 years old, but it may take considerable clinical acumen to determine this.
Penetrance
Expressivity
Penetrance and expressivity
Trinucleotide expansion
Expressivity and Trinucleotide expansion
12. Tumor suppressor genes are usually thought of as:
dominant in nature, acting to promote cell growth and/or proliferation.
dominant in nature, acting to prevent excessive cell growth and proliferation.
recessive in nature, acting to suppress cell growth and proliferation
recessive in nature, acting to promote cell growth and proliferation
acting in either a dominant or recessive manner, to suppress cell growth regulation.
13. Changes in protein kinase activity are:
almost never seen as the result of oncogene activation.
often seen as a result of cellular oncogene activation, and most often affects serine amino acids in the target proteins.
often seen as a result of cellular oncogene activation and often results in changes to tyrosine amino acids in the target proteins.
often seen as a result of cellular oncogene activation, but never results in alterations in either serine or tyrosine amino acids in target proteins.
of little importance in evaluating the malignant potential of any tumor.
14. On DNA analysis of the breakpoint cluster region a patient showed probe positive bands which were 6.3, 5.0 and 4.0 kb in length. Control cells showed a single band at 5.0 kb. These results indicate that the patient:
was suffering from neuroblastoma
was negative for CML
was positive for Burkett's lymphoma
was positive for CML
none of the above
15. Which of the following qualities BEST describes a cost-effective newborn reening program? (choose best answer)
The disorder must be common, there must be a medical benefit to early diagnosis and there must be a test with no false positive results
The disorder must be curable by early treatment, the disorder must be common and the test must be inexpensive
Centers for treatment must be in place, early treatment must be shown to be beneficial and a test with acceptable false positive rate must be available
The test must have few false negatives, be cheap and test for a disorder with a specific curative treatment
16. All of the following are absolute indications to refer a prenatal patient to genetics EXCEPT:
Either parent is a carrier of a balanced chromosomal rearrangement
Parental consanguinity
History of one prior pregnancy ending in miscarriage
Family history of cystic fibrosis
17. You are called to see a 24 hour old, full term, male infant who is lethargic, hypotonic and tachypneic (breathing rapidly). The mother is a 32 year old white woman whose previous baby son died at 3 days with similar symptoms. She has one normal so n aged 3 years. Which of the following biochemical tests would you order first?
Mother's anti-D IgG levels (measure of Rh incompatibility)
Infant's hemoglobin electrophoresis
Infant's plasma ammonia level
Infant's sweat chloride level
Infant's plasma phenylalanine level
]
تعليق