معهد البحوث الطبيه Medical Research Institute Department Human Genetics Semester: Fall Degree: Master Academic year: 2020/2021 Course title: Genes and Diseases Time allowed: 60 minutes Course code: 1213714 Date: 3 / 12/ 2020 Midterm Exam Total marks: 25 THE EXAM CONSISTS OF “1” QUESTION IN “8” PAGES All questions to be answered Question No.1: (25 Marks, 0.5 for each) I- Choose the correct answer: 1- The mode of inheritance of Job syndrome is : A- Autosomal dominant B- Autosomal recessive C- X-linked D- Multifactorial 2- T cell deficiency is a feature of: A- Bruton X-linked agammaglobulinemia B- Hereditary angioedema C- Common variable immunodeficiency D- Ataxia Telangiactasia 3- …………… is caused by pathogenic variants in STAT3 A- Common variable immunodeficiency B- IgA deficiency C- Job syndrome D- Ataxia-telangiectasia 4- Absence of mature B cells is a feature of : A- Bruton X-linked agammaglobulinemia B- Ataxia Telangiactasia C- 22q11.2 Deletion syndrome D- Hereditary angioedema Page 1 of 8 5- Fluorescence in situ hybridization is used to diagnose: A- Bruton X-linked agammaglobulinemia B- B- Ataxia Telangiactasia C- 22q11.2 Deletion syndrome D- Hereditary angioedema 6- Deficiency of C1INH results in : A- Bruton X-linked agammaglobulinemia B- B- Ataxia Telangiactasia C- 22q11.2 Deletion syndrome D- Hereditary angioedema 7- The mode of inheritance of 22q11.2 Deletion syndrome is: A- Autosomal recessive B- X-linked C- Autosomal dominant D- Multifactorial 8- Autosomal dominant with incomplete penetrance is reported in patients with: A- Bruton X-linked agammaglobulinemia B- Ataxia Telangiactasia C- 22q11.2 Deletion syndrome D- Hereditary angioedema 9- Absent response to vaccines is a feature of : A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 10- Live attenuated vaccines should not be given to patients with: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 11- BTK is the only gene associated with: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia Page 2 of 8 12- Pathogenic variants of TNFRSF13B are found in patients with: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 13- Biallelic loss-of-function single nucleotide variants of ATM results in: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 14- Familial Mediterranean fever is caused by: A- Biallelic pathogenic variants in MEFV B- Pathogenic variants of TNFRSF13B C- Deficiency of C1INH D- Pathogenic variants in STAT3 15- The value of genetic testing is limited in patients with: A- Bruton X-linked agammaglobulinemia B- Common variable immunodeficiency C- IgA deficiency D- Ataxia-telangiectasia 16- Cancer cells are characterized by : A- Oncogene expression is rare B- Coordinated growth factor secretion C- Presence of tumor suppressor genes D- Loss of contact inhibition 17- Hereditary cancers are characterized by : A- Multiple cancers in same individual B- Mostly in elderly C- Somatic mutations D- Both hits in tumor 18- Familial cancer syndromes are mostly: A- Autosomal dominant B- Autosomal recessive C- X-linked D- Multifactorial Page 3 of 8 19- In diagnosing cancer, currently the preferred method for deletion/duplication analysis: A- Full gene sequencing B- Multiplex ligand-dependent probe amplification C- Chromosome analysis D- Restriction fragment length polymorphism 20- The retinoblastoma gene is located on chromosome:' A- 12p14 B- 13p14 C- 12q14 D- 13q14 21- The Li – Fraumeni syndrome is caused by mutation of a gene located on chromosome A- 17p13.3 B- 17q13.3 C- 17p11 D- 17q11 22- Retinoblastoma results from: A- Loss of an oncogene B- Activation of an oncogene C- Loss of tumor suppressor gene D- Activation of tumor suppressor gene 23- BRCA1 gene mutation will result in: A- Adrenocortical carcinomas B- Brain tumors C- Soft tissue and bone sarcomas D- Breast cancer 24- In patients with unilateral retinoblastoma: A- Sequence analysis of RB1 full gene is performed on peripheral blood DNA to identify small deletions, insertions, and base substitutions B- Molecular genetic testing for RB1 gene mutation or hypermethylation is initially performed on tumor DNA, followed by targeted testing of peripheral blood DNA C- Analysis for submicroscopic whole exon and multiexon deletions, insertions, and rearrangements by MLPA D- Gross deletion/duplication analysis by FISH Page 4 of 8 25- Segregation analysis may help in cancer patients where the: A- Test results are positive B- Test results are negative C- Test results are uninformative D- Test results show variant of uncertain significance 26- Which of the following applies to the thoracic duct? A- it drains the entire body above the diaphragm B- it empties its contents into the subclavian vein C- it carries blood into the lymphatic system D- it arises in the vessels of the brain 27- Which of the following is NOT likely to be found in the lymph? A- red blood cells B- protein molecules C- microorganisms D- macrophages 28- Those lymphatic vessels that are rich in fat A- are found only in the brain B- are known as lacteals C- enter the left atrium of the heart D- are found only within the spleen 29- What ethnic group is cystic fibrosis found most in? A- Asian B- African American C- Hispanics D- Caucasian 30- Which symptom in a child might mean CF? A- Stools that are pale, foul, or float B- Frequent wheezing or pneumonia C- Salty-tasting skin D- All of the above 31- How is CF passed down through families? A- One parent is a carrier of the CF gene B- One grandparent is a carrier of the CF gene C- Both parents are carriers of the CF gene D- All of the above 32- The mode of inheritance of Hereditary Lymphedema II is…………….. A- Autosomal recessive B- Autosomal dominant C- X-linked recessive Page 5 of 8 D- Maternal inheritance 33- What is the most common CFTR mutation? A- deltaF408 B- deltaF508 C- N1303K D- R1162X 34- Which of the following is characterized by isolated lymphedema? A- Noonan Syndrome B- Milory Disease C- Costello syndrome D- Turner syndrome 35- Hereditery Lymphedema I is caused by mutations in ………………..gene A- FGFR-2 B- FGFR-3 C- VEGFR-2 D- VEGFR-3 36- CFTR gene is mapped to….. A- 7q31 B- 7p31 C- 3q17 D- 3p17 37- ……………..is used for sweat stimulation in the diagnosis of CF. A- Pilocarpine iontophoresis B- Immunoreactive trypsinogen C- High salt content in CF sweat D- Chloride content 38- Which of the following is FALSE about Lymphedema with Distichiasis? A- Autosomal dominant B- caused by mutations in FOXC2 C- congenital odema D- Renal anomalies 39- The mode of inheritance of Lymphedema- Microcephaly- chorioretinopathy is……. E- Autosomal recessive F- Autosomal dominant G- X-linked recessive H- Maternal inheritance Page 6 of 8 40- The primary function of CFTR is cyclic AMP-stimulated protein kinase A regulation of…………… A- the endobronchial space B- chloride conductance C- the lipase component D- ciliary movement 41- Which of the following methods is the most commonly recommended for newborn screening? A- Mutation testing B- Sweat test C- Immunoreactive trypsinogen D- B and C 42- Which of the following mutation classes is associated with reduced levels of normal functioning CFTR protein at cell surface? A- Class I B- Class II C- Class III D- Class V 43- The most important differential diagnosis of Turner syndrome is………….. A- Noonan Syndrome B- Aagenaes syndrome C- Down syndrome D- All of the above 44- All of the following are true about cystic hygroma EXCEPT…….. A- Due to distention of the jugular sac B- disturbed posterior hairline C- never decompresses D- Often seen with fetal aneuploidy 45- ………….is a fatal condition if left untreated in newborns with CF. A- Bronchiectasis B- Meconium ileus C- Salty sweat D- All of the above 46- lymphedema of the face, intestinal lymphangiectasia and mental retardation are the main manifestations of………………….. A- Milory Disease B- Aagenaes syndrome C- Cardiofaciocutaneous syndrome D- Hennekam syndrome Page 7 of 8 47- How are male reproductive organs affected by CF? A- CBAVD with infertility B- Defective spermatogenesis C- normal organ development, may have reduced fertility D- A and B 48- Which of the following CFTR properties is FALSE? A- Sensor for intracellular ATP levels B- negative regulatory effect on ORCC C- Facilitator of acidification of intracellular organelles D- negative regulatory effect on ENaC 49- How is the digestive system affected by extra mucus in CF? A- The mucus can cause stomach ulcers B- The mucus can damage the bile ducts in the liver C- The mucus can clog the ducts in the pancreas D- B and C 50- Which of the following is NOT true about Aagenaes syndrome? A- Autosomal recessive B- Mapped to 17q C- Cholestasis D- Malabsorption GOOD LUCK Page 8 of 8 .