Paternal imprinting - Study guides, Revision notes & Summaries

Angelman Syndrome causes (expression and % of total) correct answers **paternal imprinting defect, should be maternal expression 5-7 kb deletion on maternal chr15q11.2-13 (60-70%) UBE3A maternal deletion (11%) Paternal UPD15 (3-7%) Angelman testing strategy and condition features correct answers methylation first since finds ~80% of cases then UBE3A seq and del/dup features: happy demeanor, abnormal gait, seizures, delayed/absent speech Prader-Willi Syndrome causes (expression and...

Test Bank for Huether and McCance's Understanding Pathophysiology, Canadian Edition, 2nd Edition by Kelly Power, Stephanie Zettel, , Mohamed Toufic El-Hussein Table of Contents PART ONE: BASIC CONCEPTS OF PATHOPHYSIOLOGY Unit 1: The Cell 1. Cellular Biology 2. Genes and Genetic Diseases 3. Epigenetics and Disease 4. Altered Cellular and Tissue Biology 5. Fluids and Electrolytes, Acids and Bases Unit 2: Mechanisms of Self-Defense 6. Innate Immunity: Inflammation and Wound Healing ...

Which PCR method has the highest specificity? A. qPCR B. Touchdown PCR C. Nested PCR D. Two-step PCR Nested PCR Given the anti-sense strand of DNA: 5'-AATTGCCGACATAGAT-3' which is the appropriate sense strand? A. 5'-ATCTATGTCGGCAATT-3' B. 5'-TTAACGGCTGTATCTA-3' C. 5'-AATTGCCGACATAGAT-3' D. 5'-GAGCACGCTATCTTAT-3' 5'-ATCTATGTCGGCAATT-3' During DNA replication, the 3' -OH of the growing DNA chain attacks which phosphate of an incoming nucleotide? A. Alpha ...

MB (ASCP) 2024 Exam Questions With Complete Solutions Consider the table below where a child and a possible father (PF) share the listed paternity indices for each locus listed (LOC-A1, LOC-B2, LOC-C3, LOC-D4). Locus Tested PF Child Paternity Index LOC-A1 3 2/3 2.18 LOC-B2 7/5 5 0.798 LOC-C3 15/17 9/17 5.21 LOC-D4 12 12 1.37 Based on the data presented in the table, what is the combined paternity index, CPI, from the loci tested: LOC-A1, LOC-B2, LOC-C3 and LOC-D4? 12.42 9.558 15.56...

MSN 570 ADVANCED PATHOPHYSIOLOGY EXAM EXAM QUESTIONS AND ANSWERS|ALREADY GRADED A A 3-day old infant is noted to have a mildly elevated unconjugated bilirubin level and icterus. Your concern is that this child may have: a. physiologic jaundice b. kernicterus c. glucose-6-phosphate dehydrogenase deficiency d. pathologic jaundice --ANS-- physiologic jaundice Which cell component is capable of cellular autodigestion when it is released during cell injury? a. lysosomes b. ribosomesc. sm...

ASCP Exam Questions and Answers Actual Test 100% Correct Which is required to generate cDNA A. DNA polymerase B. RNase H C. Restriction Enzyme D. Helicase B What is the function of Taq Polymerase recognize dsDNA You have a 50 μL primer stock at 9pM/μl and want dilute the stock to 900nM. How much stock should you add(what is the dilution factor) 2 What gene causes hypersensitivity to Irinotecan? UGT1A Which allele causes hypersensitivity to Carbamazepine? HLA-b*1502 What gives ...

ASCP Exam Questions and Answers Actual Test 100% Correct Which is required to generate cDNA A. DNA polymerase B. RNase H C. Restriction Enzyme D. Helicase B What is the function of Taq Polymerase recognize dsDNA You have a 50 μL primer stock at 9pM/μl and want dilute the stock to 900nM. How much stock should you add(what is the dilution factor) 2 What gene causes hypersensitivity to Irinotecan? UGT1A Which allele causes hypersensitivity to Carbamazepine? HLA-b*1502 What gives ...

BIO 214 EXAM 3 Practice EXAM 57 Questions with Verified Answers In the lac operon, CAP binding to the CAP site of the promoter ____. a. occurs when glucose is present b. inhibits RNA polymerase from binding to the promoter c. occurs when cAMP is absent d. helps the repressor protein bind to the operator e. enables RNA polymerase to transcribe the operon's genes - CORRECT ANSWER enables RNA polymerase to transcribe the operon's genes Gene regulation in both prokaryotes and eukaryotes...

ASCP Exam Questions and Answers Actual Test 100% Correct Which is required to generate cDNA A. DNA polymerase B. RNase H C. Restriction Enzyme D. Helicase B What is the function of Taq Polymerase recognize dsDNA You have a 50 μL primer stock at 9pM/μl and want dilute the stock to 900nM. How much stock should you add(what is the dilution factor) 2 What gene causes hypersensitivity to Irinotecan? UGT1A Which allele causes hypersensitivity to Carbamazepine? HLA-b*1502 What gives ...

The enzyme that primes DNA synthesis is: DNA primase Which of the following is a common hydrogen bond acceptor? a) A carbonyl b) Primary amine c) Hydroxyl d) Tertiary amine b) Primary amine What assay is a signal amplification test and uses Alkaline Phosphatase? a) Branched DNA b) TMA c) PCR d) NASMA e) LCR a) Branched DNA Which one of the following complementary pairings is incorrect? a) A=T b) G=C c) U=T d) A=U c) U=T This highly polymorphic l...