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Universities » Villanova University (NOVA) » BIO - Biology » 1605 - Heredity & Human Affairs » Flash Cards

Exam 1 - Flashcards

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Class:BIO 1605 - Heredity & Human Affairs
Subject:Biology
University:Villanova University
Term:Spring 2010
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What are Mendel's Laws? Law of Unit Character Law of Dominance/Recessiveness Law of Segregation Law of Independent Association
Law of Unit Character assumption of hypothetical physical unit that controls these traits
Law of Dominance/Recessiveness some traits are dominant over others, which is explained as the physical units as working in pairs
Law of Segregation the separation of members of a gene pair from each other during gamete formation
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Law in Independent Association the random distribution of genes into gametes during meiosis
Genotype the specific genetic constitution of an organism
Phenotype the observable properties of an organism
Homozygous having identical alleles for one or more genes
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Heterozygous carrying two different alleles for one or more genes
Monohybrid Cross a method of tracking the inheritance pattern of a single trait between two individual organisms
Autosome chromosomes other than the sex chromosomes
Sex-Linked genes found on the sex chromosomes
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Mendel Austrian monk who studied pea planes and developed the foundational laws of genetics
Thomas Morgan bred flied and discovered sex-linked traits
Bridges proposed the chromosomal theory of inheritance
Crighton and McClintock verify Bridge's chromosomal theory of inheritance
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What exactly are chromosomes? neucleoproteins
What is the chemical composition of chromosomes? proteins and DNA
Avery and McCloud did an experiment with pneumonococcus bacteria and identified DNA as the genetic material, not the protein
Watson and Crick discovered the double-helix structure of DNA
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Marshal Neuremberg discovered that DNA works by producing a messenger RNA molecule which then controls protein synthesis
What are the two major disciplines of work in genetics? genetic manipulation and artificial reproduction
Gene Therapy procedure in which normal genes are transplanted into humans carrying defective copies as a means of treating genetic diseases
Which is possible: somatic gene therapy or gametic gene therapy? somatic gene therapy
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Zero Point the limit of what we will do with science
What are the causes of human genetic abnormalities? mutation chromosomal abnormality multi-factorial disorder
What percentage of genetic abnormalities are mutations? 25%
Mutation a change in the base sequence of DNA
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What are the three types of mutations? autosomal dominant autosomal recessive sex-linked mutation
What is the cause of polydactyle? autosomal dominant mutation
What is the cause of achondroplasia? autosomal dominant mutation
What is the cause of Huntington's Disease? autosomal dominant mutation
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What is the cause of neurofibromatosis (elephant-man disease)? autosomal dominant mutation
What is the cause of cystic fibrosis? autosomal recessive mutation
What is cystic fibrosis? denoted: cy cy do not produce CFTR protein and produces a thick mucus in the lungs
Who is affected by cystic fibrosis? western European white people
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What is the cause of sickle cell anemia? autosomal recessive mutation
What is sickle cell anemia? denoted: s s hemoglobin disorder
Who is affected by sickle cell anemia? African and African-American people
What is the cause of tay-sachs? autosomal recessive mutation
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What is tay-sahcs? denoted: t t enzyme deficiency and as a result, the child develops fatty tissue around neurons
Who is affected by tay-sachs? Jewish people
What is the cause of thalassemia? autosomal recessive mutation
Who is affected by thalassemia? Mediterranean people
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What is the cause of pheylketonuria (PKU)? autosomal recessive mutation
What is pheylketonuria (PKU)? denoted: p p enzymatic protein problem
Who is affected by pheylketonuria (PKU)? Irish people
Who is more often affected by sex-linked mutations? boys
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What is the cause of hemophilia? sex-linked mutation
What is the cause of duchenne muscular dystrophy? sex-linked mutation
What is the cause of red/green color blindness? sex-linked mutation
What percentage of genetic abnormalities are chromosomal abnormalities? 20%
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Chromosomal Abnormality having extra chromosomes or having fewer chromosomes
What is the cause of down syndrome? chromosomal abnormality
What is the cause of fragile x syndrome? chromosomal abnormality
What is the cause of klinefelter's syndrome? chromosomal abnormality
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Who is affected by klinefelter's syndrome? males
What is the cause of turner syndrome? chromosomal abnormality
Who is affected by turner syndrome? females
Translocation part of the chromosome breaks off and attaches to another chromosome
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What percentage of genetic abnormalities are multi-factorial disorders? 55%
Multi-Factorial Disorders disorders caused by the combined effects of two or more genes on the same or on different chromosomes that interact with each other and with the environment
What is the cause of congenital heart defects? multi-factorial disorder
What is the cause of open neural tube defects? multi-factorial disorder
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What is the cause of pyloric stenosis? multi-factorial disorder
What is the cause of clubfoot? multi-factorial disorder
What is the cause of cleft lip and palate? multi-factorial disorder
What is the cause of hip dislocations? multi-factorial disorder
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What is the cause of diabetes mellitus? multi-factorial disorder
What is the cause of rheumatoid arthritis? multi-factorial disorder
What is the cause of coronary thrombosis? multi-factorial disorder
What is the cause of schizophrenia? multi-factorial disorder
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What is the cause of bipolar disorders? multi-factorial disorder
What does a discontinuous variation suggest? suggests single gene pair
What does a continuous variation suggest?
Non-Homologous Portion of X genes that occur in the X chromosome of the male
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Incompletely Sex-Linked Traits occur in the lower part of the X
Holandric Traits traits only found on the Y
Who is affected by holandric traits? males
What are examples of holandric traits? hair in ears webbed fingers
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Where are incompletely sex-linked traits located? on the lower part of the X
What are examples of incompletely sex-link traits? total color blindness night blindness
Sex-Influenced Traits traits that are not on the sex chromosome but are influenced by the sex of the person
What is an example of a sex-influenced trait? progressive pattern baldness
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Antibodies reactions to foreign antigens
What is the dominant gene in the Rh factor? D = the presence of Rh
What is the most common blood type? A+
What is the least common blood type? AB-
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Erythroblastosis Fetalis rupturing red blood cells in the fetus
What are the 5 criteria that must be met in order for erythroblastosis fetalis? 1. mother must be Rh- 2. father must be Rh+ 3. fetus must be Rh+ 4. placental seepage (6% of time) 5. must have high concentration of antibody seeping into the fetus's blood
Karyotype sequential arrangement of chromosomes form largest to smallest
What is the most common chromosomal abnormality? Downs Syndrome
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What are the characteristics of Downs Syndrome? flattened facial profile thick, protruding tongue some degree of retardation lack of Moro reflex (startle reflex) hypotomia (poor muscle tone) hyperflexibility (increased flexibility) epicanthal folds (folds in the upper part of the eyelid) palmer crease (one very deep crease through palm) cardiac and intestinal malformations honest and open behavior (child-like)
What is the single highest determinant of having a child with a chromosomal abnormality? mother's age
What is the risk to a second child having down syndrome when the first child has the disorder? the risk doubles
What is the genotype of a child with Turners Syndrome? X (XO)
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What are the characteristics of turner syndrome? shorter than normal skin webbing in neck broader chest widely spaced nipples has very small uterus and negligible ovaries no retardation
What is the treatment for those affected with turners syndrome? hormone replacement therapy (especially for secondary sex characteristics)
What is the genotype for a person with klinefelter's syndrome? XXY
What are the characteristics of klinefelter's syndrome? breast development small testes (no sperm) narrow shoulders less body hair compared to nationality longer than normal long bones some retardation
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What is the genotype for Jacob's Syndrome? XYY
What are the characteristics of Jacob's Syndrome? taller than usual pock marks on face due to excessive acne
What are the characteristics of XXX syndrome? taller than usual
What are the characteristics of the genotype OY? none. it's a lethal combination
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True or False: Polyploidy is lethal in animals. True
Percent Concordance the percentage of sameness
What is the percent concordance of monozygotic twins sitting up? 82%
What is the percent concordance of monozygotic twins walking? 68%
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What is the percent concordance of monozygotic twins eye color? 99.9%
What is the percent concordance of monozygotic twins blood pressure? 63%
What is the percent concordance of monozygotic twins left/right handedness? 79%
What is the percent concordance of monozygotic twins having diabetes? 84%
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What is the percent concordance of monozygotic twins having TB? 74%
What is the percent concordance of monozygotic twins having epilepsy? 72%
What is the percent concordance of monozygotic twins having schizophrenia? 80%
What is the percent concordance of dizygotic twins sitting up? 76%
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What is the percent concordance of dizygotic twins walking? 31%
What is the percent concordance of dizygotic twins eye color? 28%
What is the percent concordance of dizygotic twins blood pressure? 36%
What is the percent concordance of dizygotic twins left/right handedness? 77%
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What is the percent concordance of dizygotic twins having diabetes? 37%
What is the percent concordance of dizygotic twins having TB? 28%
What is the percent concordance of dizygotic twins having epilepsy? 15%
What is the percent concordance of dizygotic twins having schizophrenia? 13%
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What variable has the biggest difference in percent concordance among monozygotic and dizygotic twins? eye color
What variable has the least difference in percent concordance among monozygotic and dizygotic twins? left/right handedness
Eugenics an attempt to improve the human species by selective breeding
Positive Eugenics breeding for the genes we want
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Negative Eugenics calling out and eradicating the genes we don't want
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 What are Mendel's Laws?Law of Unit Character
Law of Dominance/Recessiveness
Law of Segregation
Law of Independent Association
 Law of Unit Characterassumption of hypothetical physical unit that controls these traits
 Law of Dominance/Recessivenesssome traits are dominant over others, which is explained as the physical units as working in pairs
 Law of Segregationthe separation of members of a gene pair from each other during gamete formation
 Law in Independent Associationthe random distribution of genes into gametes during meiosis
 Genotypethe specific genetic constitution of an organism
 Phenotypethe observable properties of an organism
 Homozygoushaving identical alleles for one or more genes
 Heterozygouscarrying two different alleles for one or more genes
 Monohybrid Cross a method of tracking the inheritance pattern of a single trait between two individual organisms
 Autosomechromosomes other than the sex chromosomes
 Sex-Linkedgenes found on the sex chromosomes
 MendelAustrian monk who studied pea planes and developed the foundational laws of genetics
 Thomas Morganbred flied and discovered sex-linked traits
 Bridgesproposed the chromosomal theory of inheritance
 Crighton and McClintockverify Bridge's chromosomal theory of inheritance
 What exactly are chromosomes?neucleoproteins
 What is the chemical composition of chromosomes?proteins and DNA
 Avery and McClouddid an experiment with pneumonococcus bacteria and identified DNA as the genetic material, not the protein
 Watson and Crickdiscovered the double-helix structure of DNA
 Marshal Neurembergdiscovered that DNA works by producing a messenger RNA molecule which then controls protein synthesis
 What are the two major disciplines of work in genetics?genetic manipulation and artificial reproduction
 Gene Therapyprocedure in which normal genes are transplanted into humans carrying defective copies as a means of treating genetic diseases
 Which is possible: somatic gene therapy or gametic gene therapy?somatic gene therapy
 Zero Pointthe limit of what we will do with science
 What are the causes of human genetic abnormalities?mutation
chromosomal abnormality
multi-factorial disorder
 What percentage of genetic abnormalities are mutations?25%
 Mutationa change in the base sequence of DNA
 What are the three types of mutations?autosomal dominant
autosomal recessive
sex-linked mutation
 What is the cause of polydactyle?autosomal dominant mutation
 What is the cause of achondroplasia?autosomal dominant mutation
 What is the cause of Huntington's Disease?autosomal dominant mutation
 What is the cause of neurofibromatosis (elephant-man disease)?autosomal dominant mutation
 What is the cause of cystic fibrosis?autosomal recessive mutation
 What is cystic fibrosis?denoted: cy cy
do not produce CFTR protein and produces a thick mucus in the lungs
 Who is affected by cystic fibrosis?western European white people
 What is the cause of sickle cell anemia?autosomal recessive mutation
 What is sickle cell anemia?denoted: s s
hemoglobin disorder
 Who is affected by sickle cell anemia?African and African-American people
 What is the cause of tay-sachs?autosomal recessive mutation
 What is tay-sahcs?denoted: t t
enzyme deficiency and as a result, the child develops fatty tissue around neurons
 Who is affected by tay-sachs?Jewish people
 What is the cause of thalassemia?autosomal recessive mutation
 Who is affected by thalassemia?Mediterranean people
 What is the cause of pheylketonuria (PKU)?autosomal recessive mutation
 What is pheylketonuria (PKU)? denoted: p p
enzymatic protein problem
 Who is affected by pheylketonuria (PKU)?Irish people
 Who is more often affected by sex-linked mutations?boys
 What is the cause of hemophilia?sex-linked mutation
 What is the cause of duchenne muscular dystrophy?sex-linked mutation
 What is the cause of red/green color blindness?sex-linked mutation
 What percentage of genetic abnormalities are chromosomal abnormalities?20%
 Chromosomal Abnormalityhaving extra chromosomes or having fewer chromosomes
 What is the cause of down syndrome?chromosomal abnormality
 What is the cause of fragile x syndrome?chromosomal abnormality
 What is the cause of klinefelter's syndrome?chromosomal abnormality
 Who is affected by klinefelter's syndrome?males
 What is the cause of turner syndrome?chromosomal abnormality
 Who is affected by turner syndrome?females
 Translocationpart of the chromosome breaks off and attaches to another chromosome
 What percentage of genetic abnormalities are multi-factorial disorders?55%
 Multi-Factorial Disordersdisorders caused by the combined effects of two or more genes on the same or on different chromosomes that interact with each other and with the environment
 What is the cause of congenital heart defects?multi-factorial disorder
 What is the cause of open neural tube defects?multi-factorial disorder
 What is the cause of pyloric stenosis?multi-factorial disorder
 What is the cause of clubfoot?multi-factorial disorder
 What is the cause of cleft lip and palate?multi-factorial disorder
 What is the cause of hip dislocations?multi-factorial disorder
 What is the cause of diabetes mellitus?multi-factorial disorder
 What is the cause of rheumatoid arthritis?multi-factorial disorder
 What is the cause of coronary thrombosis?multi-factorial disorder
 What is the cause of schizophrenia?multi-factorial disorder
 What is the cause of bipolar disorders?multi-factorial disorder
 What does a discontinuous variation suggest?suggests single gene pair
 What does a continuous variation suggest? 
 Non-Homologous Portion of Xgenes that occur in the X chromosome of the male
 Incompletely Sex-Linked Traitsoccur in the lower part of the X
 Holandric Traitstraits only found on the Y
 Who is affected by holandric traits?males
 What are examples of holandric traits?hair in ears
webbed fingers
 Where are incompletely sex-linked traits located?on the lower part of the X
 What are examples of incompletely sex-link traits?total color blindness
night blindness
 Sex-Influenced Traitstraits that are not on the sex chromosome but are influenced by the sex of the person
 What is an example of a sex-influenced trait?progressive pattern baldness
 Antibodiesreactions to foreign antigens
 What is the dominant gene in the Rh factor?D = the presence of Rh
 What is the most common blood type?A+
 What is the least common blood type?AB-
 Erythroblastosis Fetalisrupturing red blood cells in the fetus
 What are the 5 criteria that must be met in order for erythroblastosis fetalis?1. mother must be Rh-
2. father must be Rh+
3. fetus must be Rh+
4. placental seepage (6% of time)
5. must have high concentration of antibody seeping into the fetus's blood
 Karyotypesequential arrangement of chromosomes form largest to smallest
 What is the most common chromosomal abnormality?Downs Syndrome
 What are the characteristics of Downs Syndrome?flattened facial profile
thick, protruding tongue
some degree of retardation
lack of Moro reflex (startle reflex)
hypotomia (poor muscle tone)
hyperflexibility (increased flexibility)
epicanthal folds (folds in the upper part of the eyelid)
palmer crease (one very deep crease through palm)
cardiac and intestinal malformations
honest and open behavior (child-like)
 What is the single highest determinant of having a child with a chromosomal abnormality?mother's age
 What is the risk to a second child having down syndrome when the first child has the disorder?the risk doubles
 What is the genotype of a child with Turners Syndrome?X (XO)
 What are the characteristics of turner syndrome?shorter than normal
skin webbing in neck
broader chest
widely spaced nipples
has very small uterus and negligible ovaries
no retardation
 What is the treatment for those affected with turners syndrome?hormone replacement therapy (especially for secondary sex characteristics)
 What is the genotype for a person with klinefelter's syndrome?XXY
 What are the characteristics of klinefelter's syndrome?breast development
small testes (no sperm)
narrow shoulders
less body hair compared to nationality
longer than normal long bones
some retardation
 What is the genotype for Jacob's Syndrome?XYY
 What are the characteristics of Jacob's Syndrome?taller than usual
pock marks on face due to excessive acne
 What are the characteristics of XXX syndrome?taller than usual
 What are the characteristics of the genotype OY?none. it's a lethal combination
 True or False: Polyploidy is lethal in animals.True
 Percent Concordancethe percentage of sameness
 What is the percent concordance of monozygotic twins sitting up?82%
 What is the percent concordance of monozygotic twins walking?68%
 What is the percent concordance of monozygotic twins eye color?99.9%
 What is the percent concordance of monozygotic twins blood pressure?63%
 What is the percent concordance of monozygotic twins left/right handedness?79%
 What is the percent concordance of monozygotic twins having diabetes?84%
 What is the percent concordance of monozygotic twins having TB?74%
 What is the percent concordance of monozygotic twins having epilepsy?72%
 What is the percent concordance of monozygotic twins having schizophrenia?80%
 What is the percent concordance of dizygotic twins sitting up?76%
 What is the percent concordance of dizygotic twins walking?31%
 What is the percent concordance of dizygotic twins eye color?28%
 What is the percent concordance of dizygotic twins blood pressure?36%
 What is the percent concordance of dizygotic twins left/right handedness?77%
 What is the percent concordance of dizygotic twins having diabetes?37%
 What is the percent concordance of dizygotic twins having TB?28%
 What is the percent concordance of dizygotic twins having epilepsy?15%
 What is the percent concordance of dizygotic twins having schizophrenia?13%
 What variable has the biggest difference in percent concordance among monozygotic and dizygotic twins?eye color
 What variable has the least difference in percent concordance among monozygotic and dizygotic twins?left/right handedness
 Eugenicsan attempt to improve the human species by selective breeding
 Positive Eugenicsbreeding for the genes we want
 Negative Eugenicscalling out and eradicating the genes we don't want
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