Tietz Fundamentals of Clinical Chemistry and Molecular
Diagnostics Chapter 47 with Complete Solutions
Assembly - ANSWER-Reconstruction of short-sequence reads on a scaffold of
reference DNA.
Autosome - ANSWER-A non-sex chromosome.
Base pair - ANSWER-Complementary base pairing of guanine and cytosine and
adenine and thymine through hydrogen bonding.
Centromere - ANSWER-The region of a chromosome between the small and long arms
that is used during mitosis to attach the spindle fibers.
Chromatin - ANSWER-A structure in the eukaryotic nucleus composed of DNA and
histone proteins.
Chromosome - ANSWER-A nucleic acid structure bound by protein containing all or a
portion of an organism's genetic information.
Codon - ANSWER-A three-base code found in messenger RNA, used in translation to
specify the amino acid to be incorporated in the growing polypeptide chain.
Copy number variant (CNV) - ANSWER-A structural variant of a large region of the
genome that has been deleted or duplicated.
Deletion - ANSWER-A DNA sequence that is missing in one sample compared with
another. Deletions may be as small as one nucleotide or as large as an entire
chromosome.
Deoxyribonucleic acid (DNA) - ANSWER-Repository of the genetic material in an
organism.
DNA methylation - ANSWER-Addition of a methyl group to a cytosine, used to regulate
gene expression.
Epigenetics - ANSWER-Modifications that affect DNA packaging and accessibility
without changing the DNA sequence.
Eukaryote - ANSWER-An organism that contains a nucleus and whose DNA is in
chromosomes.
Exon - ANSWER-Portion of a gene that codes for protein.
Exonuclease - ANSWER-An enzyme that cuts in the middle of a stretch of DNA at a
specific sequence of bases.
, FASTQ file - ANSWER-A text output file of sequencing reads in a run, along with the
quality scores of each position.
Fusion - ANSWER-A translocation, inversion, large deletion, or large duplication
resulting in a hybrid gene formed from originally separate genes.
Gene - ANSWER-DNA structure that codes for the production of a protein.
Gene expression - ANSWER-Synthesis of a gene product in the form of an RNA or
protein from a gene.
Genetic code - ANSWER-Collection of three base sequences called codons used to
translate the nucleic acid information into amino acids during protein synthesis.
Genome - ANSWER-The complete genetic content of an organism.
Genotype - ANSWER-The unique genetic information of an organism or cell.
Heteroplasmic - ANSWER-A mixture of more than one type of mitochondrial sequence
in one cell.
Histones - ANSWER-Basic proteins that bind to DNA to form nucleosomes, basic units
of chromatin.
Indels - ANSWER-"Originally, designating a unique class of sequence variants including
both insertions and deletions, resulting in an overall change in the number of base pairs.
Today the term more commonly refers to either insertions or deletions or a combination
thereof."
Insertion - ANSWER-"An extra DNA sequence that is present in one sample compared
with a reference sequence."
Intergenic - ANSWER-"DNA sequence between genes."
Intron - ANSWER-"DNA between exons that do not code for protein and are removed
by RNA splicing."
Micro RNA (miRNA) - ANSWER-"Small RNAs that are not translated and function to
regulate translation."
Missense variant - ANSWER-"A nucleotide substitution that changes a codon to the
code for a different amino acid. Although these sequence changes are commonly
referred to as missense 'mutations,' this is strictly a misnomer because missense
variants may be benign and cause no disease. The preferred nomenclature for
nucleotide changes in clinical testing is now 'variants' rather than mutations."
Diagnostics Chapter 47 with Complete Solutions
Assembly - ANSWER-Reconstruction of short-sequence reads on a scaffold of
reference DNA.
Autosome - ANSWER-A non-sex chromosome.
Base pair - ANSWER-Complementary base pairing of guanine and cytosine and
adenine and thymine through hydrogen bonding.
Centromere - ANSWER-The region of a chromosome between the small and long arms
that is used during mitosis to attach the spindle fibers.
Chromatin - ANSWER-A structure in the eukaryotic nucleus composed of DNA and
histone proteins.
Chromosome - ANSWER-A nucleic acid structure bound by protein containing all or a
portion of an organism's genetic information.
Codon - ANSWER-A three-base code found in messenger RNA, used in translation to
specify the amino acid to be incorporated in the growing polypeptide chain.
Copy number variant (CNV) - ANSWER-A structural variant of a large region of the
genome that has been deleted or duplicated.
Deletion - ANSWER-A DNA sequence that is missing in one sample compared with
another. Deletions may be as small as one nucleotide or as large as an entire
chromosome.
Deoxyribonucleic acid (DNA) - ANSWER-Repository of the genetic material in an
organism.
DNA methylation - ANSWER-Addition of a methyl group to a cytosine, used to regulate
gene expression.
Epigenetics - ANSWER-Modifications that affect DNA packaging and accessibility
without changing the DNA sequence.
Eukaryote - ANSWER-An organism that contains a nucleus and whose DNA is in
chromosomes.
Exon - ANSWER-Portion of a gene that codes for protein.
Exonuclease - ANSWER-An enzyme that cuts in the middle of a stretch of DNA at a
specific sequence of bases.
, FASTQ file - ANSWER-A text output file of sequencing reads in a run, along with the
quality scores of each position.
Fusion - ANSWER-A translocation, inversion, large deletion, or large duplication
resulting in a hybrid gene formed from originally separate genes.
Gene - ANSWER-DNA structure that codes for the production of a protein.
Gene expression - ANSWER-Synthesis of a gene product in the form of an RNA or
protein from a gene.
Genetic code - ANSWER-Collection of three base sequences called codons used to
translate the nucleic acid information into amino acids during protein synthesis.
Genome - ANSWER-The complete genetic content of an organism.
Genotype - ANSWER-The unique genetic information of an organism or cell.
Heteroplasmic - ANSWER-A mixture of more than one type of mitochondrial sequence
in one cell.
Histones - ANSWER-Basic proteins that bind to DNA to form nucleosomes, basic units
of chromatin.
Indels - ANSWER-"Originally, designating a unique class of sequence variants including
both insertions and deletions, resulting in an overall change in the number of base pairs.
Today the term more commonly refers to either insertions or deletions or a combination
thereof."
Insertion - ANSWER-"An extra DNA sequence that is present in one sample compared
with a reference sequence."
Intergenic - ANSWER-"DNA sequence between genes."
Intron - ANSWER-"DNA between exons that do not code for protein and are removed
by RNA splicing."
Micro RNA (miRNA) - ANSWER-"Small RNAs that are not translated and function to
regulate translation."
Missense variant - ANSWER-"A nucleotide substitution that changes a codon to the
code for a different amino acid. Although these sequence changes are commonly
referred to as missense 'mutations,' this is strictly a misnomer because missense
variants may be benign and cause no disease. The preferred nomenclature for
nucleotide changes in clinical testing is now 'variants' rather than mutations."
