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Genetics and Molecular Biology: Fundamentals and Applications, Exams of Nursing

A comprehensive overview of the fundamental concepts in genetics and molecular biology, covering topics such as dna structure, gene expression, chromosomes, genetic inheritance patterns, and genetic disorders. It delves into the mechanisms underlying genetic processes, including dna replication, transcription, translation, and the role of various genetic elements like genes, alleles, and chromosomes. The document also explores the clinical applications of genetic knowledge, such as genetic testing, disease diagnosis, and treatment. With its detailed explanations and precise answers to key questions, this resource serves as a valuable reference for students and professionals in the fields of biology, medicine, and biotechnology, enabling them to deepen their understanding of the complex and fascinating world of genetics.

Typology: Exams

2023/2024

Available from 08/21/2024

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MCCANCE PATHOPHYSIOLOGY

CHAPTER 4 EXAM 2024/

Genes are composed - Precise Answer ✔✔DNA genes are located on - Precise Answer ✔✔chromosomes The most important constituent of DNA is the four types of nitrogenous bases, which are labeled - Precise Answer ✔✔A, C, G, T DNA bases code for - Precise Answer ✔✔amino acids, therefore making proteins amino acids in DNA are specified by - Precise Answer ✔✔Triplet codons of nitrogenous bases DNA replication is based on - Precise Answer ✔✔complementary base pairing DNA polymerase is the primary enzyme involved in - Precise Answer ✔✔replication It adds bases to the new DNA strand and performs "proofreading" functions

A mutation is - Precise Answer ✔✔an inherited alteration of genetic material Substances that cause mutations are - Precise Answer ✔✔mutagens The mutation rate in humans - Precise Answer ✔✔ranges from 10-4 to 10-7 per gene, per generation What is the difference between RNA and DNA? - Precise Answer ✔✔- RNA is single stranded and DNA is double stranded -RNA also has uracil instead of thymine transcription and translation - Precise Answer ✔✔- occurs in the nucleus where the mRNA takes a copy of DNA

  • occurs in the cytoplasm with the help of ribosomes
  • purpose is to produce proteins throughout the body ; DNA codes for that Transcription is - Precise Answer ✔✔A base-pairing event. mRNA takes the code to the ribosome in the cytoplasm where the amino acids will be assembled. Much of the RNA sequence is spliced from the mRNA before - Precise Answer ✔✔the mRNA leaves the nucleus.

-Excised sequences are introns -Exons remain to code for proteins MicroRNA's - Precise Answer ✔✔small single-stranded RNA molecules that can bind to complementary sequences in mRNA molecules (17-27 nucleotides in length) Transcription factor-binding sites - Precise Answer ✔✔The places in the genome where transcription factors bind Translation is - Precise Answer ✔✔the process in which the genetic code in mRNA is read to make a protein from the ribosomes During translation, mRNA interacts with - Precise Answer ✔✔tRNA, a molecule that has an attachment site for a specific amino acid Human cells consist of - Precise Answer ✔✔diploid somatic cells and haploid gametes Humans have - Precise Answer ✔✔23 pairs of chromosomes; 22 of these pairs are autosomes. -The remaining pair consists of sex cells, either X or Y A karyotype is - Precise Answer ✔✔an ordered display of all of an individual's chromosomes

How many live births have a major diagnosable chromosome abnormality? - Precise Answer ✔✔Approximately 1 in 150 Chromosome abnormalities are the leading cause of what? - Precise Answer ✔✔Mental retardation and miscarriage polyploidy is the condition in which - Precise Answer ✔✔an organism has more than two complete sets of chromosomes Somaticcells that do not have a multiple of 23 chromosomes are - Precise Answer ✔✔aneuploid, which is usually a result of nondisjunction Trisomy is a type of aneuploidy in which - Precise Answer ✔✔one chromosome is present in 3 copies in somatic cells. Monosomy is a type of aneuploidy in which - Precise Answer ✔✔one chromosome is present in only one copy of somatic cells What causes more severe physical defects, monosomies or trisomies? - Precise Answer ✔✔Monosomies Trisomy 21 is also known as - Precise Answer ✔✔Down syndrome caused by nondisjunction of the 21 chromosome

Trisomy 21 affects how many live births, and to mothers of what demographic? - Precise Answer ✔✔1 in 800 live births, to mothers who are over the age of 35 Most aneuploidies of sex chromosomes have less severe consequences than those of - Precise Answer ✔✔autosomes The most common observed sex chromosome aneuploidies are - Precise Answer ✔✔- 47, XXX karyotype

  • 45, X karyotype (Turners Syndrome) -47, XXY karyotype (Kleinefelter syndrome) -47, XYY karyotype abnormalities of chromosome structure - Precise Answer ✔✔deletions, duplications, inversions, translocations Mendelian traits are caused by - Precise Answer ✔✔single genes, each of which occupies a position, or locus, on a chromosome. Alleles are - Precise Answer ✔✔Different forms of a gene At any given locus in a somatic cell, an individual has - Precise Answer ✔✔two genes, one from each parent. Genotype is - Precise Answer ✔✔genetic makeup of an organism

Phenotype is - Precise Answer ✔✔the physical appearance of an organism At a heterozygous locus, a dominant genes effects mask those of - Precise Answer ✔✔a recessive gene. It is expressed only when it is present in two copies. Genetic diseases caused by single genes usually follow - Precise Answer ✔✔autosomal dominant, autosomal recessive, or X-linked recessive modes of inheritance Pedigree charts are - Precise Answer ✔✔an important tool in the analysis of mode of inheritance Recurrence risks specify - Precise Answer ✔✔the probability that future offspring will inherit a genetic disease. For single-gene diseases, recurrence risks remain - Precise Answer ✔✔the same for each offspring, regardless of the number of affected or unaffected offspring. The recurrence risk for autosomal dominant diseases is usually - Precise Answer ✔✔50%

Germline mosaicism can alter - Precise Answer ✔✔recurrence risks for genetic diseases because unaffected parents can produce multiple affected offspring Skipped generations are not seen in - Precise Answer ✔✔classic autosomal dominant pedigrees Males and females are equally likely to exhibit - Precise Answer ✔✔autosomal dominant diseases and to pass them on to their offspring. A gene that is not always expressed phenotypically is said to have - Precise Answer ✔✔incomplete penetrance Penetrance may be - Precise Answer ✔✔age-dependent, as in Huntington disease and familial breast cancer Parents of children with autosomal recessive diseases are most commonly - Precise Answer ✔✔both heterozygous carriers of the disease gene. In this case, the recurrence risk for autosomal recessive diseases is 25%. Males and females are equally likely to be affected by - Precise Answer ✔✔autosomal recessive diseases

Consanguinity is sometimes present in - Precise Answer ✔✔families with autosomal recessive diseases Carrier detection tests can be used for determining - Precise Answer ✔✔autosomal recessive diseases The frequency of genetic diseases approximately doubles in - Precise Answer ✔✔the offspring of first-cousin matings. In each normal female somatic cell, one of the two X chromosomes is - Precise Answer ✔✔inactivated early in embryogenesis. X-inactivation is - Precise Answer ✔✔random, fixed, and incomplete (i.e., only part of the chromosome is actually inactivated). It may involve methylation. When the Y chromosome lacks the SRY gene, - Precise Answer ✔✔an XY female can be produced Males are hemizygous for genes on the - Precise Answer ✔✔X chromosome

X-linked recessive diseases are seen much more often in - Precise Answer ✔✔males than in females, because males need only one copy of the gene to express the disease Fathers cannot pass on - Precise Answer ✔✔X-linked genes to their sons Skipped generations are often seen in X-linked recessive disease pedigrees because - Precise Answer ✔✔the gene can be transmitted through carrier females. Recurrence risks for X-linked recessive diseases depend on - Precise Answer ✔✔the carrier and affected status of the mother and father. During meiosis I - Precise Answer ✔✔crossing over occurs and can cause recombinations of alleles located on the same chromosome. The frequency of recombinations can be used to - Precise Answer ✔✔infer the map distance between loci on the same chromosome. A marker locus can be used to predict - Precise Answer ✔✔whether an individual will develop a genetic disease

The complete human genome sequence will facilitate - Precise Answer ✔✔gene identification, diagnosis, and disease treatment.