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Lex Genetics Exam 1 > 1. Fundamentals Of Human Genome > Flashcards

1. Fundamentals Of Human Genome Flashcards

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1
Q

Five common misconceptions about genetics

A
  1. Genetics deals with only rare disorder -many are common, diabetes
  2. Children should not be tested for genetic disorders - only true for adult onset conditions
  3. Insurance does not pay for genetic testing - yes
  4. Genetic testing leads to discrimination - GINA prevent discrimination
  5. Genetic disorders are not treatable - many are
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2
Q

Human genome

A

2 branches - nuclear genome and mitochondrial genome

Mitochondrial genome: small but highly efficient less than 5% is junk (rRNA, tRNA, protein-coding genes)

Nuclear genome - 80% junk coding DNA (code for proteins 1.25% of genome) non-coding DNA (do not code for protein, regulatory non coding RNA, regulatory functions)

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3
Q

Nucleic Acids

A

Provide genetic material of cells and viruses

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4
Q

Genes

A

DNA segments that carry the genetic information to make proteins or functional RNA molecules within the cells

23,000-25,000 protein encoding enzymes in human genome = code for 100,000 proteins

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5
Q

Genome

A

Collective term for all different DNA molecules within a cell or organism

Distributed between nucleus and mitochondria

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6
Q

Transcriptome

A

Total set of transcripts in an organism

Expressions of genes modified by external influences (ex: phosphyloration)

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7
Q

Proteome

A

Protein variation and function expressed by a genome, cell, tissue or organism

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8
Q

Metabolome

A

Complete set of small-molecule metabolites

such as metabolic intermediates, hormones and other signaling molecules

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9
Q

Human microbiome

A

Refers to constellation of viruses, bacteria, and fungi that colonize various human tissues

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10
Q

Deoxyribose vs ribose

A

Deoxyribose in DNA - H on second carbon

Ribose in RNA - OH on second carbon

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11
Q

Purines

A

Double ring

Adenine (A)
Guanine (G)

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12
Q

Prymadine

A

Single ring

Thymine (T) - DNA more stable because of methyl group
Uracil (U) - RNA more reactive because of H group
Cytosine (C)

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13
Q

Nucleic acids

A

Consist of sugar, nitrogenous base and phosphate group

A-T (2 H bonds)
C-G (3 H bonds, stronger)

RNA single nucleotide chain

Chargers rule number of G=C, number to A=T

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14
Q

DNA replication (semi-conservative)

A

2 stands of double helix are unwound and each strand is used to make a new complementary DNA copy - occurs in S phase of cell cycle

DNA polymerase II — attach new DNA nucleotides

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15
Q

Transcription

A

Genes are used to make single stranded RNA copy that is complementary in sequence to one of the DNA strands

Produces an RNA copy of gene -mRNA contains information to make a polypeptide

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16
Q

Translation

A

Coding sequence of mRNA are used to make the polypeptide chain of protein

Polypeptide becomes part of functional protein that contributes to an organisms traits

17
Q

DNA replication cycle

A

Transcription - produces RNA copy of gene

MessengerRNA -

Translation - produces polypeptide using the information in the mRNA

Polypeptide -becomes part of functional protein that contributes to an organisms traits

18
Q

Exons and introns

A

Our protein coding genes often contain a rather small amount of coding DNA

Coding genes are split into segments called exons that are separated by non coding DNA sequences called introns

19
Q

RNA splicing

A

Involves cleaving the RNA transcript at the junctions between transcribed exons and introns

The transcribed exons sequences are then covalently linked (spliced) in turn to make a mature RNA

Complexity comes from using different combinations of exons make alternative transcripts from the same gene - alternative splicing

20
Q

Synthesized polypeptide to mature protein

A

Chemical modification
Folding
Cleavage and transport
Binding of multiple polypeptide chains

21
Q

Sickle cell disease

A

Most common inherited blood disorder

Point mutation in B-globin - Hb crystallize in low O2 - MI, Stroke, Anemia

SCD: glutamate to valine - protection against falciparum malaria

Pathogenesis: chronic hemolysis, microvascular occlusions and tissue damage

When Hb is deoxygenated - crystallization of membrane occurs - calcium comes in then apoptosis

Obstruct blood vessels and more sticky
Affects bloodstream, heart, brain

22
Q

Clinical features of SCD

A

SCD - moderately severe hemolytic anemia -reticulocytosis, hyperbilirubinemia and irreversibly sickled disease

Vaso-occlusive crisis - pain crisis

Acute chest syndrome - priapism, stroke, retinopathy/blindness, autospleenectomy

Chronic hypoxia -generalized impairment of growth and development -organ damage affecting spleen, heart, kidneys, and lungs

Altered splenic functions - susceptibility to infections

23
Q

Hutchinson - Gifford Progeria Syndrome

A

Rare fatal genetic condition of childhood (diagnosed around 2 yrs old) with striking features resembling premature against

Sporadic autosomal dominant mutation

Abnormal laminate A (progerin) - abnormal nuclear envelope
Cumulative cellular damage -abnormal aging process

Laminate A/C mutations
Emery-Dreifuss MD/Skeletal myopathy
Progressive AV block and atrial arrhythmia
Worst prognosis than DCM without LMNA mutation

Affects DNA replication - Farnesyl - mutation means farnesyl cannot be cut off laminate A and protein piles up in nuclear envelope

24
Q

Hutchinson - Gifford Progeria Syndrome Clinical features

A

Distinctive skin and skeletal defects

Progressive arteriosclerosis and associated cardiovascular abnormalities - life threatening complications

Die in teens

25
Q

Cystic fibrosis

A

CF is the most common lethal inherited disease in Caucasian’s that is lethal

Caused by defects in CF transmembrane conductance regulator (CFTR) gene - chloride channel

CFTR mutations - abnormalities of cAMP-regulated chloride transport across epithelial cells in mucosal surfaces

Autosomal recessive disorder - affects mostly lungs, but also pancreas, liver, kidneys and intestine

Lungs-loss of CFTR
Decrease Cl- transport
Increase Na2+ absorption
Increase water absorption 
Decrease colliery clearance

Accumulation of defective Cl channel
attracts Na2+,
water follows salt then creates mucus that is hard to clear

26
Q

Diabetes Mellitus

A

HNF4A gene mutation - maturity onset diabetes of the young
MODY - prevalence 2-5%

Mutation in HNF4A
Degradation of mutated transcripts
Defective pancreases and B-cell function
MODY (monogenetic, B cell defect) = type 1

Mutation in PPARa/ABCC*/KCNJ11 gene (transcription factor)
Defective insulin secretion/sensitivity
Type II DM (polygenetic - peripheral resistance)

Type I - autoimmune, polygenetic

Lex Genetics Exam 1 (4 decks)

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