Ehlers danlos mutation - Study guides, Class notes & Summaries

Lesch-Nyhan syndrome - type of deficiency - symptoms - ***HGPRT deficiency Gout, intellectual disability, aggressive behavior, hyperuricemia, dystonia Kartegener's syndrome - dynein arm defect in cilia - ***Situs inversus, chronic sinusitis, bronchiectasis, infertility, sperm immotile, fallopian tubes affected What's mutated in this individual? Osteogenesis imperfecta - collagen type 1 defect - ***Blue sclera mottled dentition brittle bones What is defective? Marfan Syndro...

BCHM 270 MIDTERM TEST QUESTIONS WITH CORRECT ANSWERS Intramolecular disulfide bond - Answer-2 C (1 C can form disulfide bonds with other C groups) Phosphorylated - Answer-S, T, Y Alpha helix breakers - Answer-P Bulky clusters: Y, W, L, V, F Charged clusters: K, R, H, D, E Ionizable side chains - Answer-R, K, Y, C, H, E, D Scurvy - Answer-Caused by impaired hydroxylation of lysine and proline causing unstable triple helices due to vitamin C deficiency. Prion disease - Answer-P...

Q3 SCNM MGEN - Final (Diseases)Occulocutaneous Albumism (OA) is what kind of inheritance? - correct answer Autosomal Recessive Genes responsible for oculocutaneous albumism (OA) are found on what chromosome? - correct answer Chromosome 15 What is a main characteristic of Cystic Fibrosis? Hypermobile Joints Mental Retardation Hemophilia Thick Mucus - correct answer Thick Mucus Cystic Fibrosis occurs due to a defect located on what chromosome? - correct answer Chromosome 7 The most...

USMLE STEP 1- First AidDiseases/Disorders/Deficiencies/Syndromes Exam 2023 (A+) Adenosine deaminase (ADA) deficiency - ANS-An immunodeficiency disorder and one type of SCIDs that is caused by an *inborn error in the metabolism of adenine*. The accumulation of adenine destroys both B and T lymphocytes. Increase in dATP is lymphotoxic Lesch-Nyhan syndrome - ANS-*Defective purine salvage due to absent HGPRT*, which converts hypoxanthine to IMP and guanine to GMP. Results in *excess uric ...

Human Genetics Practice Ch 10-14 Exam 154 Questions with Verified Answers The process of copying a gene's DNA sequence into a sequence of RNA is called _____. A) replication B) transcription C) translation D) PCR - CORRECT ANSWER B) transcription RNA contains which nitrogen-containing bases? A) adenine, thymine, guanine, cytosine, uracil B) adenine, thymine, guanine, cytosine C) thymine, guanine, cytosine, uracil D) adenine, guanine, cytosine, uracil - CORRECT ANSWER D) ad...

Q3 SCNM MGEN - Final (Diseases) Occulocutaneous Albumism (OA) is what kind of inheritance? - correct answer Autosomal Recessive Genes responsible for oculocutaneous albumism (OA) are found on what chromosome? - correct answer Chromosome 15 What is a main characteristic of Cystic Fibrosis? Hypermobile Joints Mental Retardation Hemophilia Thick Mucus - correct answer Thick Mucus Cystic Fibrosis occurs due to a defect located on what chromosome? - correct answer Chromosome 7 The mo...

Genetic Counseling Boards Review Questions and Answers (summer 2023/24). - A young patient (5yrs) presents for the first time to a new dentist with crowded teeth, making them very hard to clean. In further exploration of the issue, she learns that the child had delayed eruption of his teeth. The patient's mother also relays that her pediatrician has several times noted how prominent the veins of his scalp are and his short stature. However, she thinks that this is just part of the spectrum ...

BCHM 270 Diseases Exam Practice Questions and Answers Sickle Cell Anemia - Correct Answer️️ -Biochemistry: The aggregation of mutated hemoglobin protein caused by substitution of glutamic acid to valine Symptoms: RBC take on abnormal sickle shape, causing cells to stick together and cause blockages in small vessels Alzheimer's Disease - Correct Answer️️ -Biochemistry: Abnormal cleavage of the hydrophobic section of a protein, which causes aggregation into long, insoluble neuroto...

NBME 25 2023 COMPLETE EXAM 1 Exam Section 1: Item 1 of 50 National Board of Medical Examiners Comprehensive Basic Science Self-Assessment 1. A75-year-old man has decreased exercise tolerance and occasional syncopal episodes related to exertion. Left-heart catheterization discloses this pressure tracing (Ao -aorta; LV -left ventricle; LA - left atrium). The most frequently encountered mechanism underlying this disorder is which of the following? ЕCG A) Amyloid deposition 150- B) Calc...

Human Genetics Practice Ch 10-14 Exam 154 Questions with Verified Answers The process of copying a gene's DNA sequence into a sequence of RNA is called _____. A) replication B) transcription C) translation D) PCR - CORRECT ANSWER B) transcription RNA contains which nitrogen-containing bases? A) adenine, thymine, guanine, cytosine, uracil B) adenine, thymine, guanine, cytosine C) thymine, guanine, cytosine, uracil D) adenine, guanine, cytosine, uracil - CORRECT ANSWER D) ad...