Allelic heterogeneity - Study guides, Class notes & Summaries

acrocentric Refers to the terminal location of the centromere on chromosomes 13, 14, 15, 21 and 22 allelic heterogeneity the situation in which multiple alleles at a singe locus can produce one or more disease phenotypes amorphic Refers to mutations that cause a complete loss of function for the respective gene, and therefore yield the same phenotype as a complete gene deletion Aneuploidy denotes any unbalanced chromosome complement antimorphic Refers to mutations that when present in h...

ABGC Exam Prep Questions and Answers Advanced Empathy - CORRECT ANSWER-Used to go below the surface of a conversation Reflection of things not directly stated Includes reframing and interpretation confrontation - CORRECT ANSWER-Asking the client to see things differently Use it for the client's advantage Rogerian Counseling: Person-First Counseling - CORRECT ANSWER-Unconditional positive regard Be genuine Show empathy, warmth, and caring Be calm Therapeutic alliance/ dignity an...

ABGC Exam Prep Questions and Answers 100% Pass Advanced Empathy - Used to go below the surface of a conversation Reflection of things not directly stated Includes reframing and interpretation confrontation - Asking the client to see things differently Use it for the client's advantage Rogerian Counseling: Person-First Counseling - Unconditional positive regard Be genuine Show empathy, warmth, and caring Be calm Therapeutic alliance/ dignity and respect Empathy Collaboration Posi...

ABGC Boards: Metabolics Exam Questions and Answers 100% Pass What causes inborn errors of metabolism? - ANSWER -Enzyme deficiencies What causes the symptoms of IEMs? - ANSWER -1. Accumulation of substrate, or 2. Deficiency of product T/F: Individuals with IEMs usually have dysmorphic features - ANSWER -F What is the usual inheritance pattern of IEMs? - ANSWER -Recessive T/F: IEMs usually have effective treatment options - ANSWER -T Why are IEMs common targets of NBS? - ANSWER -Effective,...

Table of Contents Multiple Choice Questions: Chapter 1: Background and History ................................................................................... 3 Chapter 2: Basic Cell Biology: Structure and Function of Genes and Chromosomes ....... 5 Chapter 3: Genetic Variation: Its Origin and Detection ..................................................... 7 Chapter 4: Autosomal Dominant and Recessive Inheritance ............................................. 9 Chapter 5: Sex-linked and...

ABGC Exam Prep Questions and Answers 100% Pass Advanced Empathy - ANSWER -Used to go below the surface of a conversation Reflection of things not directly stated Includes reframing and interpretation confrontation - ANSWER -Asking the client to see things differently Use it for the client's advantage Rogerian Counseling: Person-First Counseling - ANSWER -Unconditional positive regard Be genuine Show empathy, warmth, and caring Be calm Therapeutic alliance/ dignity and respect Empa...

The diseases differ in onset and severity, but not in inheritance pattern. They should therefore be considered: - ANSWER Allelic diseases-- this is allelic heterogeneity What gives most accurate info on fetal aneuploidy @ 12 weeks w/out placing pregnancy at risk? - ANSWER Non-invastive prenatal testing (e.g. blood test) If a patient has a chromosomal translocation involving homologous chromosomes, e.g. 21;21 translocation, what is risk of having offspring with unbalanced chroms? - ANSWER 10...

PCOL 838 Genetic Disease Exam With 100% Correct Answers

PKU/HPA correct answer: *Phenylketonuria/hyperphenylalaninemia* PKU: Autosomal Recessive -Phenylalanine Hydroxylase Deficiency >Usually Phe breaks down to Tyrosine, melanin, etc >Leads to toxic effects of Phenylpyruvate and metabolites: Phenylpyruvate goes to other pathways as it builds up and makes toxic metabolites such as phenylacetate. -Enzyme deficiency= LOSS of function -Example of Allelic Heterogeneity: Different mutations in same gene cause the SAME disease. *Accumulation ...

MMSC491 Final Exam Questions and Answers (With 100% Error-Free Answers) Latest 2024 (GRADED) phenotype correct answers the set of observable characteristics of an individual resulting from the interaction of its genotype genotype correct answers the genetic constitution of an individual organism homozygous correct answers having two identical alleles of a particular gene or genes heterozygous correct answers having two different alleles of a particular gene or genes compound heterozygote co...