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...

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...

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...

MMSC491 Exam 2 Questions and Answers (With 100% Error-Free Answers) Latest 2024 Rated A+! 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 corre...

MMSC491 Exam 2 Questions and Answers (With 100% Error-Free Answers) Latest 2024 SOLVED. 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 correct...

PCOL 838 Genetic Disease Exam With 100% Correct Answers

WEEK 1 Walden 6501 advanced pathophysiology (genetics, cellular biology and tissue) Answered Correctly!! acrocentric refers to the terminal location of centromere on chromosomes 13, 14, 15, 21, and 22 allelic heterogeneity the situation in which multiple alleles at a single locus can produce one or more disease phenotypes. amorphic refers ro mutations that cause a complete loss of function for the respective gene, and therefore yield the same phenotype as a complete gene deletion. aneup...

week 1 Walden 6501 advanced pathophysiology questions with solutions 2024 acrocentric refers to the terminal location of centromere on chromosomes 13, 14, 15, 21, and 22 allelic heterogeneity the situation in which multiple alleles at a single locus can produce one or more disease phenotypes. amorphic refers ro mutations that cause a complete loss of function for the respective gene, and therefore yield the same phenotype as a complete gene deletion. aneuploidy a general...