Term
| Categories of genetic diseases (4) |
|
Definition
| 1) Chromosomal, 2) Mendelian, 3) polygenic/multifactorial, 3) Non-Mendelian |
|
|
Term
| What category of genetic disease: monosomy |
|
Definition
|
|
Term
| What category of genetic disease: aneuploidy |
|
Definition
|
|
Term
| What category of genetic disease: translocation |
|
Definition
|
|
Term
| What category of genetic disease: symptoms manifest in childhood |
|
Definition
|
|
Term
| What category of genetic disease: underlies most common disorders |
|
Definition
|
|
Term
| What category of genetic disease: obesity |
|
Definition
|
|
Term
| What category of genetic disease: alcolism |
|
Definition
|
|
Term
| What category of genetic disease: trinucleotie repeats |
|
Definition
|
|
Term
| What category of genetic disease: mosaicims |
|
Definition
|
|
Term
| What category of genetic disease: uniparental disomy |
|
Definition
|
|
Term
| What category of genetic disease: genomic imprinting |
|
Definition
|
|
Term
| What category of genetic disease: mitochondrial |
|
Definition
|
|
Term
| Family history red flags (10) |
|
Definition
| 1) Earlier age of onset than expected, 2) sudden death in the healthy, 3) 3+ pregnancy losses, 4) consanguinity, 5) developmenta delay, 6) dysmorphic features, 7) birth defects, 8) learning disabilities, 9) disproportionate stature, 10) infertility |
|
|
Term
| Indications for counselling (7) |
|
Definition
| 1) Any of the "red flags", 2) advanced maternal age, 3) teratogen exposure, 4) family history indicates, 5) new genetic diagnosis, 6) genetic testing, 7) positive newborn screening |
|
|
Term
| Risk recurrence aspects (3) |
|
Definition
| 1) Apply Mendelian and statistical principles, 2) genetic & carrier testing, 3) empirical risk |
|
|
Term
| Reproductive management (5) |
|
Definition
| 1) Contraception, 2) sterilization, 3) addoption, 4) gamete donation, 5) preimplantation genetic diagnosis |
|
|
Term
|
Definition
|
|
Term
|
Definition
| An- -euploid: not euploid, so ±chromsomes from euploidy |
|
|
Term
|
Definition
| 1% chance that two markers will become separated due to crossing over |
|
|
Term
|
Definition
|
|
Term
| Non-disjunction causes ____ |
|
Definition
|
|
Term
| ____ increases with advanced maternal age |
|
Definition
|
|
Term
| Heterodisomy results from non-disjunction in: Meiosis I or II |
|
Definition
|
|
Term
| Isodisomy results from non-disjunction in: Meiosis I or II |
|
Definition
|
|
Term
|
Definition
| Disomy from homologous, not same, chromosome |
|
|
Term
|
Definition
| Disomy from the same, not the homologous, chromosome |
|
|
Term
| Disomy resulting from the same chromosome |
|
Definition
|
|
Term
| Disomy resulting from the homologous chromosome |
|
Definition
|
|
Term
| Source of karyotyping cells (3) |
|
Definition
| 1) T lymphocytes, 2) skin fibroblasts, 3) amniocytes |
|
|
Term
| Karyotyping arrests cells in what phase |
|
Definition
|
|
Term
| Giemsa staining based on what nucleobase content |
|
Definition
|
|
Term
| Numerical aberrations detectable with karyotyping (3) |
|
Definition
| 1) Trisomy, 2) monosomy, 3) triploidy |
|
|
Term
| Structural aberrations detectable with karyotyping (4) |
|
Definition
| Large 1) deletions, 2) duplications, 3) translocations, 4) inversions |
|
|
Term
| Classifications of chromsomes based on relative arm lengths (3) |
|
Definition
| 1) Metacentric, 2) submetacentric, 3) acrocentric |
|
|
Term
| Karyotype banding that has 400 bands per genome: standard or high resolution |
|
Definition
|
|
Term
| Karyotype banding that has 800 bands per genome: standard or high resolution |
|
Definition
|
|
Term
| Indications for chromosomal analysis (6) |
|
Definition
| 1) Stillbirth/neonatal death, 2) fertility problems, 3) advanced maternal age pregnancy, 4) family history, 5) early growth/developmental problems, 6) cancer |
|
|
Term
|
Definition
| 1) Down, 2) Edward, 3) Patau |
|
|
Term
| Turner syndrome: cytogenetic notation |
|
Definition
|
|
Term
| Turner syndrome: incidence |
|
Definition
|
|
Term
| Turner syndrome: recurrence risk |
|
Definition
|
|
Term
| Turner syndrome: maternal or paternal nondisjunction |
|
Definition
|
|
Term
| Turner syndrome: 2/3 are ____, 1/3 are ____ |
|
Definition
| 2/3 are (45,X), 1/3 are mosaics |
|
|
Term
| Turner syndrome: features (5) |
|
Definition
| 1) Poorly developed lymphatics, 2) heart defects (coarctation), 3) short stature, 4) amenorrhea, 5) webbing of neck |
|
|
Term
| Klinefelter syndrome: cytogenetic notation |
|
Definition
|
|
Term
| Klinefelter syndrome: incidence (general population) |
|
Definition
|
|
Term
| Klinefelter syndrome: incidence (high-grade infertility) |
|
Definition
|
|
Term
| Klinefelter syndrome: recurrence risk |
|
Definition
|
|
Term
| Klinefelter syndrome: maternal or paternal nondisjunction |
|
Definition
| 2/3 maternal, 1/3 paternal |
|
|
Term
| Klinefelter syndrome: features (6) |
|
Definition
| 1) Small testes, 2) cryptorchidism, 3) gynecomastia, 4) infertility, 5) behavioral/personality problems, 6) mental retardation |
|
|
Term
| Down syndrome: cytogenetic notation, general form |
|
Definition
|
|
Term
|
Definition
| 1/770 (1/2000 @ age 20, 1/100 @ age 40) |
|
|
Term
| Down syndrome: recurrence risk |
|
Definition
| Increases with maternal age |
|
|
Term
| Down syndrome: maternal or parental nondisjunction |
|
Definition
|
|
Term
| Down syndrome: features (5) |
|
Definition
| 1) Mental retardation, 2) heart defects, intestinal atresias, 4) hypothyroidism, 5) single transverse palmar crease |
|
|
Term
| Down syndrome: cytogenetic notation for Robertsonian (2) |
|
Definition
| 45,XX,t(14;q21) or 45,XX,der(14;q21)(q10;q10) |
|
|
Term
| Down syndrome: cytogenetic notation for isochrome |
|
Definition
|
|
Term
| Edward syndrome: cytogenetic notation |
|
Definition
|
|
Term
| Edward syndrome: incidence |
|
Definition
|
|
Term
| Edward syndrome: recurrence risk |
|
Definition
| 1%, slightly increased with advanced maternal age |
|
|
Term
| Edward syndrome: features (6) |
|
Definition
| 1) Profound motor & mental retardation, 2) heart defects, 3) overlapping fingers, 4) renal malformations, 5) rocker-bottom feet, 6) micrognathia |
|
|
Term
| Patau syndrome: cytogenetic notation |
|
Definition
|
|
Term
| Patau syndrome: incidence |
|
Definition
|
|
Term
| Patau syndrome: recurrence risk |
|
Definition
|
|
Term
| Patau syndrome: recurrence risk if parent is translocation carrier |
|
Definition
|
|
Term
| Patau syndrome: prognosis |
|
Definition
|
|
Term
| Patau syndrome: features (8) |
|
Definition
| 1) Poor prognosis, 2) heart defects, 3) cleft lip/palate, 4) renal defects, 5) rocker-bottom feet, 6) polydactyly, 7) mental retardation, 8) microphthalmia |
|
|
Term
| Sex chromeome syndromes (2) |
|
Definition
| 1) Turner, 2) Klinefelter |
|
|
Term
| Balanced karyotype means abnormal ____ but normal ____ |
|
Definition
| Abnormal chromosoma structure but normal complement of genetic information |
|
|
Term
| Structural abnormality carriers at risk of (3) |
|
Definition
| 1) Producing unbalanced gametes, 2) miscarriages, 3) unbalanced offspring |
|
|
Term
| Translocations produce normal phenotype: yes or no |
|
Definition
|
|
Term
| Translocations: incidence |
|
Definition
|
|
Term
| Translocations are problematic for meiosis: yes or no |
|
Definition
|
|
Term
| Translocation: alternate segregation has what chromosomes |
|
Definition
| 2 normal or 2 translocated |
|
|
Term
| Translocation: adjacent-1 segregation has what chromosomes |
|
Definition
| 1 normal and 1 nonhomologous translocated |
|
|
Term
| Translocation: adjacent-2 segregation has what chromosomes |
|
Definition
| 1 normal and 1 homologous translocated |
|
|
Term
| Translocation of 3 & 11: cell with 3 & 11 had what segregation |
|
Definition
|
|
Term
| Translocation of 3 & 11: cell with der(3) & der(11) had what segregation |
|
Definition
|
|
Term
| Translocation of 3 & 11: cell with der(3) & 11 had what segregation |
|
Definition
|
|
Term
| Translocation of 3 & 11: cell with der(3) & 11 had what segregation |
|
Definition
|
|
Term
| Translocation of 3 & 11: cell with 3 & der(3) had what segregation |
|
Definition
|
|
Term
| Translocation of 3 & 11: cell with 11 & der(11) had what segregation |
|
Definition
|
|
Term
| Translocation: alternate segregation: balanced or unbalanced gametes |
|
Definition
|
|
Term
| Translocation: adjacent-1 segregation: balanced or unbalanced gametes |
|
Definition
|
|
Term
| Translocation: adjacent-2 segregation: balanced or unbalanced gametes |
|
Definition
|
|
Term
| Robertsonian translocation |
|
Definition
| Fusion of two acrocentric chromosomes with loss of p arm |
|
|
Term
| Chromosomes 13, 14, 15, 21, & 22 involved in what chromosomal structural abnormality |
|
Definition
| Robertsonian translocation (the acrocentric chromosomes) |
|
|
Term
| Common robertsonian translocations (3) |
|
Definition
| 1) 13/14, 2) 14/21, 3) 21/21 (isochromosome) |
|
|
Term
| Robertsonian translocation of 14 & 21: cell with 14 & 21 had what segregation and has what karyotype |
|
Definition
| Alternate segregation; normal karyotype |
|
|
Term
| Robertsonian translocation of 14 & 21: cell with 14 & rob(14,21) had what segregation and has what karyotype |
|
Definition
| Adjacent segregation; 47,+14 (trisomy 14) |
|
|
Term
| Robertsonian translocation of 14 & 21: cell with 14 had what segregation and has what karyotype |
|
Definition
| Adjacent segregation; 45,-21 (monosony 21) |
|
|
Term
| Robertsonian translocation of 14 & 21: cell with 21 & rob(14,21) had what segregation and has what karyotype |
|
Definition
| Adjacent segregation: 47,+21 (trisomy 21) |
|
|
Term
| Robertsonian translocation of 14 & 21: cell with 21 had what segregation and has what karyotype |
|
Definition
| Adjacent segregation: 45,-14 (monosony 14) |
|
|
Term
|
Definition
| Inverted segment of a chromosome |
|
|
Term
| Unbalanced translocation: incidence |
|
Definition
| 1/17000 live-born infants |
|
|
Term
| Inversion not including the centromere: paracentric or pericentric |
|
Definition
|
|
Term
| Inversion including the centromere: paracentric or pericentric |
|
Definition
|
|
Term
| Inversion that yields unviable offspring: paracentric or pericentric |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Inversion that yields 50% viable offspring: paracentric or pericentric |
|
Definition
|
|
Term
| Inversion that yields viable offspring with copies: paracentric or pericentric |
|
Definition
|
|
Term
| Ring chromosome phenotypes |
|
Definition
|
|
Term
|
Definition
| Loss of an arm and the other reduplicates (pp or qq chromosome) |
|
|
Term
| Results in having 1 copy of an arm and 3 copies of the othe arm of a single chromosome |
|
Definition
|
|
Term
| Causes of isochromosomes (2) |
|
Definition
| 1) Misdivision through centreomere in Meiosis II, 2) translocation of an arm to its homologue |
|
|
Term
| Deletion [in terms of chrosomes] |
|
Definition
| Loss of a chromosome segment compatible with partial monosomy |
|
|
Term
| Causes of chromosomal deletions (3) |
|
Definition
| 1) Loss of acentric region, 2) unequal crossing over, 3) abnormal segregation from balance translocations |
|
|
Term
| Which is generally less serious complications: deletion or duplication |
|
Definition
|
|
Term
| Causes of chromosomal duplications (2) |
|
Definition
| 1) Unequal crossing over, 2) abnormal segregation from meiosis in the carrier of the translocation or inversion |
|
|
Term
| Genomic resolution of FISH (in kbp) |
|
Definition
|
|
Term
| Wolf-Hirschhorn syndrome: cytogenetic notation |
|
Definition
|
|
Term
| Wolf-Hirschhorn syndrome: incidence |
|
Definition
|
|
Term
| Wolf-Hirschhorn syndrome: recurrence risk |
|
Definition
|
|
Term
| Wolf-Hirschhorn syndrome: features (9) |
|
Definition
| 1) Cleft lip/palate, 2) growth deficiency, 3) macrocephaly, 4) heart defect (ASD), 5) mental deficiency, 6) seizures, 7) hypotnia, 8) hypospadias, 9) cryptorchidism |
|
|
Term
| Wolf-Hirschhorn syndrome: diagnostic test |
|
Definition
|
|
Term
| Down syndrome: diagnostic test |
|
Definition
|
|
Term
| Edward syndrome: diagnostic test |
|
Definition
|
|
Term
| Patau syndrome: diagnostic test |
|
Definition
|
|
Term
| Klinefelter syndrome: diagnostic test |
|
Definition
|
|
Term
| Turner syndrome: diagnostic test |
|
Definition
|
|
Term
| Cri du Chat syndrome: cytogenetic notation |
|
Definition
|
|
Term
| Cri du Chat syndrome: incidence |
|
Definition
|
|
Term
| Cri du Chat syndrome: recurrence risk |
|
Definition
|
|
Term
| Cri du Chat syndrome: features (5) |
|
Definition
| 1) Microcephaly, 2) small for gestational age, 3) cry of cat, 4) hypotonia, 5) heart defects |
|
|
Term
| Cri du Chat syndrome: diagnostic test |
|
Definition
|
|
Term
| DiGeorge/Velocardiofacial syndrome: cytogenetic notation |
|
Definition
|
|
Term
| DiGeorge/Velocardiofacial syndrome: loss of what gene |
|
Definition
|
|
Term
| DiGeorge/Velocardiofacial syndrome: incidence |
|
Definition
|
|
Term
| DiGeorge/Velocardiofacial syndrome: features (5) |
|
Definition
| 1) Heart defects, 2) facial dysmorphisms, 3) T-cell defects, 4) cleft palate, 5) hypocalcemia |
|
|
Term
| DiGeorge/Velocardiofacial syndrome: diagnostic test |
|
Definition
|
|
Term
| Williams syndrome: cytogenetic notation |
|
Definition
|
|
Term
| Williams syndrome: incidence |
|
Definition
|
|
Term
| Williams syndrome: loss of what gene |
|
Definition
|
|
Term
| Williams syndrome: features (5) |
|
Definition
| 1) Facial dysmorphisms, 2) stellate iris, 3) hypercalcemia, 4) characteristic behaviors, 5) stenoses (supravalvular aortic, pulmonary artery) |
|
|
Term
| Williams syndrome: diagnostic test |
|
Definition
|
|
Term
| Genomic resolution of CGH (in kbp) |
|
Definition
|
|
Term
| Vertical transmission regardless of sex: what Mendelian inheritance pattern |
|
Definition
|
|
Term
|
Definition
| How many express phenotype |
|
|
Term
|
Definition
| 1) Complete, 2) reduced/incomplete, 3) nonpenetrance |
|
|
Term
|
Definition
| Spectrum and severity of a phenotype |
|
|
Term
|
Definition
| Randomly new cases when neither parent is affected |
|
|
Term
| The more severe a disorder, the more or less likely a sporadic case |
|
Definition
|
|
Term
|
Definition
| Proportion of games, not just one, have a mutation |
|
|
Term
|
Definition
| A genetic disorder with more than one cause |
|
|
Term
| Genetic heterogeneity types (2) |
|
Definition
| 1) Locus heterogeneity, 2) allelic heterogeneity |
|
|
Term
|
Definition
| Genetic heterogeneity of a mutation in 1 gene of many genes |
|
|
Term
|
Definition
| Genetic heterogeneity of a mutation in 1 spot of many spots in a single gene |
|
|
Term
| Homozygous affected individuals |
|
Definition
| Typically the phenotype is more severe int he homozygous |
|
|
Term
| Horizontal transmission regardless of sex: what Mendelian inheritance pattern |
|
Definition
|
|
Term
| Marfan syndrome: mutation of what gene |
|
Definition
|
|
Term
| Marfan syndrome: features (6) |
|
Definition
| 1) Tall, 2) thin, 3) aortic dilatations/dissections/aneurysms, 4) mitral valve prolapse, 5) myopia, 6) iridodenesis |
|
|
Term
| Neurofibromatosis-1: mutation of what gene |
|
Definition
|
|
Term
| Neurofibromatosis-1: features (5) |
|
Definition
| 1) Neurofibromas, 2) Cafe au lait nodules, 3) learning disabilities, 4) ADHD, 5) increased risk of tumors |
|
|
Term
| Marfan syndrome: exhibits what kind of genetic heterogeneity |
|
Definition
|
|
Term
| Marfan syndrome: what inheritance pattern |
|
Definition
|
|
Term
| Neurofibromatosis-1: what inheritance pattern |
|
Definition
|
|
Term
|
Definition
| Inheritance appears dominant due to high carrier frequency |
|
|
Term
|
Definition
| Individual that must be a carrier |
|
|
Term
| Hemochromoatosis (hereditary): incidence |
|
Definition
|
|
Term
| Cystic fibrosis: incidence |
|
Definition
| 1/2500 (Northern European) |
|
|
Term
| Cystic fibrosis: mutation of what gene |
|
Definition
|
|
Term
| Cystic fibrosis: what inheritance pattern |
|
Definition
|
|
Term
| Cystic fibrosis: diagostic test |
|
Definition
|
|
Term
| Mendelian inheritance pattern associated with obligate carriers |
|
Definition
| X-linked & autosomal recessive |
|
|
Term
| X-linked recessive is never transmitted from ___ to ___ |
|
Definition
|
|
Term
| X-linked recessive: which is more severely affected: male or female |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Notably, who are obligate carriers for X-linked recessive |
|
Definition
| Daughters of affected males |
|
|
Term
| Are daughters of affected males for X-linked recessive the ONLY obligate carriers possible: yes or no |
|
Definition
|
|
Term
| Lyonization (Lyon hypothesis) |
|
Definition
| Second X in females is condensed & inactive (Barr body) |
|
|
Term
|
Definition
| Mother of an affected son (X-linked recessive) has a 2/3 chance of being a carrier |
|
|
Term
| If two males are affected by X-linked recessive, what should be considered about the mother |
|
Definition
|
|
Term
| X-linked dominant is never transmitted from ___ to ___ |
|
Definition
|
|
Term
| What inheritance pattern is never transmitted from father to son (2) |
|
Definition
| X-linked dominant & recessive |
|
|
Term
| X-linked dominant: ratio of affected male-to-female |
|
Definition
|
|
Term
| Rett syndrome: what inheritance pattern |
|
Definition
|
|
Term
| Rett syndrome: affected males? |
|
Definition
| No, lethal to males (hemizygous) |
|
|
Term
|
Definition
| 1) Loss of developmental skills, 2) hand writing, 3) progressive deterioration |
|
|
Term
| Big accomplishments of the human genome project (2) |
|
Definition
| 1) Vastly improved sequencing technology, 2) lowered cost ($1000 for exome) |
|
|
Term
| How many nucleotides is the human genome |
|
Definition
|
|
Term
|
Definition
|
|
Term
| How many proteins per gene |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| 1) 0.1% difference in coding regions, 2) millions of SNP's, 3) copy number variations |
|
|
Term
| A model of how science should be done refers to what |
|
Definition
|
|
Term
|
Definition
| 1) SNV's, 2) SNP's, 3) indels, 4) structural, 5) CNV's, 6) STR's, 7) VNTR's |
|
|
Term
| Goals of understanding DNA variation (4) |
|
Definition
| 1) Predisposition, 2) diagnosis, 3) prognosis, 4) treatment |
|
|
Term
| Are mRNA microarrays used much: yes or no |
|
Definition
| No, best to avoid RNA when possible |
|
|
Term
| Old/current technologies (5) |
|
Definition
| 1) Karyotype, 2) FISH, 3) Southern blot, 4) PCR, 5) dideoxy sequencing |
|
|
Term
| New/current technologies (4) |
|
Definition
| 1) mRNA microarray, 2) SNP microarray, 3) CGH microarray, 4) high-throughput DNA sequencing |
|
|
Term
| Are SNP microarrays used clinically: yes or no |
|
Definition
| No, not really (though direct-to-consumer does) |
|
|
Term
| Are CGH microarrays used clinically: yes or no |
|
Definition
| Yes, for congential anomalies, non-syndromic developmental disability, & autism spectrum disorders |
|
|
Term
| Can SNP or CGH microarrays detect balanced translocations: yes or no |
|
Definition
|
|
Term
| High-throughput DNA sequencing error rate |
|
Definition
| Significantly higher than older sequencing: 0.5-2% |
|
|
Term
| How many fragments should cover any given nucleotide with high-throughput sequencing |
|
Definition
|
|
Term
| Reasons high-throughput DNA sequencing not used clinically much (3) |
|
Definition
| 1) Cost, 2) "we are all mutants", 3) lots of novel variation |
|
|
Term
| Individuals generally have how many SNP's |
|
Definition
|
|
Term
| Individuals generally have how many indels |
|
Definition
|
|
Term
| Individuals generally have how many deletions/duplications ³ 2 kb |
|
Definition
|
|
Term
| Loss of function is generally: recessive or dominant |
|
Definition
|
|
Term
| Loss of function as dominant examples (3) |
|
Definition
| 1) Tumor supressors, 2) familial hypercholesterolemia, 3) autosomal dominant polycystic kidney disease |
|
|
Term
| Trisomies generally exhibit: gain or loss of function |
|
Definition
|
|
Term
| Sickle cell anemia is an example of what molecular mechanism |
|
Definition
| Acquisition of a novel property: defense against malaria |
|
|
Term
| Ectopic gene expression if loss of what |
|
Definition
| Regulation of normal gene expression |
|
|
Term
| Loss of regulation of normal gene expression is what |
|
Definition
|
|
Term
|
Definition
| Loss of function through a dominant effect of mutant |
|
|
Term
| Osteogenesis imperfecta is an example of what molecular mechanism |
|
Definition
|
|
Term
| MYOC glaucoma is an example of what molecular mechanism |
|
Definition
|
|
Term
| Aspects of gain of function mutations (2) |
|
Definition
| 1) Enhanced normal function (constituitive), 2) increased production |
|
|
Term
| Bardet-Biedl syndrome: example of what genetic heterogeneity |
|
Definition
| Locus heterogeneity (BBS1-BBS17 form a complex for intracellular trafficking) |
|
|
Term
| Triplet repeat dysfunctions what in Fragile X |
|
Definition
| Hypermethylation and supression of FMR1 |
|
|
Term
| Triplet repeat dysfunctions what in Myotonic Dystrophy |
|
Definition
| Interferes with CUG-binding proteins |
|
|
Term
| Triplet repeat dysfunctions what in Huntington's |
|
Definition
| Misfolding and toxic function when aggregates |
|
|
Term
| What combinations exist between hemoglobin _1 and _2 |
|
Definition
|
|
Term
| What combination of hemoglobin _ alleles is lethal |
|
Definition
| Absencse of HBA1 and HBA2 from both chromosomes |
|
|
Term
| Alpha-thalassemias result from what |
|
Definition
| Deficiency in alpha globins |
|
|
Term
| Beta-thalassemias result from what |
|
Definition
| Mutations: missense, nonsense, splice sites, promoters, LCR |
|
|
Term
|
Definition
| Differential expression based on parental source |
|
|
Term
| Germline cells do what w.r.t. genetic imprinting |
|
Definition
|
|
Term
| Mechanisms of genetic imprinting (2) |
|
Definition
| 1) Methylation, 2) histone modification |
|
|
Term
| Paternal conflict hypothesis: which sex tries to maximize growth |
|
Definition
|
|
Term
| Paternal conflict hypothesis: which sex tries to limit growth |
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Definition
|
|
Term
| Human examples of paternal conflict hypothesis (2) |
|
Definition
| 1) Hydatidiform moles, 2) ovarian teratomas |
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Term
|
Definition
| Trisomy results in a loss of the 3rd chromosome |
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|
Term
|
Definition
| Monosmy results in duplication of chromosome to get disomy |
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|
Term
| Which won't be found in heterodisomy: trisomy or monosomy rescue |
|
Definition
| Monosomy rescue (necessarily requires 2 different chromosomes from a parent) |
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Term
| Syndromes resulting from uniparental disomy with imprinted genes (3) |
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Definition
| 1) Beckwith-Wiedemann, 2) Prader-Willi, 3) Angelman |
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|
Term
| Beckwith-Wiedemann syndrome: genetic origin |
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Definition
|
|
Term
| Beckwith-Wiedemann syndrome: features (6) |
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Definition
| 1) Macroglossia, 2) macrosomia, 3) omphalocele, 4) Wilms tumor, 5) hypoglycemia, 6) hypotonia |
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Term
| Trinucleotide repeats occur in which region(s): non-coding, exons, introns |
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Definition
|
|
Term
| Polyglutamine tract repeats associated with what diseases |
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Definition
|
|
Term
| Nonpolyglutamine tract repeats associated with what diseases (2) |
|
Definition
| 1) Hypermethylation, 2) interaction with RNA-binding proteins |
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|
Term
| Characteristics of trinucleotide repeat mutations (3) |
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Definition
| 1) Premutations/full mutations, 2) instability in DNA replication, 3) anticipation |
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|
Term
| Is the instability of DNA replication w.r.t. trinucleotide repeats affected by sex: yes or no |
|
Definition
|
|
Term
|
Definition
| Reduction in age of onset with each generation |
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|
Term
| Fragile X syndrome: genetic origin |
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Definition
| Trinucleotide repeat in 5' untranslated region of FMR1 |
|
|
Term
| Fragile X syndrome: full mutation results in |
|
Definition
| Hypermethylation and inactivation of FMR1 |
|
|
Term
| Fragile X syndrome: features (6) |
|
Definition
| 1) Mental retardation, 2) language disability, 3) macrocephaly, 4) long face, 5) Large testes, 6) lax ligaments |
|
|
Term
| Fragile X syndrome: associated disorders (2) |
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Definition
|
|
Term
| Fragile X syndrome: polyglutamine or nonpolyglutamine tract |
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Definition
|
|
Term
| Huntington's disease: incidence |
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Definition
|
|
Term
| Huntington's disease: de novo mutation rate |
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Definition
|
|
Term
| Huntington's disease: genetic origin |
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Definition
|
|
Term
| Huntington's disease: exhibits what characteristics (2) |
|
Definition
| 1) Late age of onset, 2) anticipation |
|
|
Term
| Huntington's disease: genetic inheritance pattern |
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Definition
|
|
Term
| Huntington's disease: features (3) |
|
Definition
| 1) Chorea, 2) memory loss, 3) personality changes |
|
|
Term
| Huntington's disease: juvenile form often from which parent |
|
Definition
|
|
Term
| Mitochondrial disorders involve what organ systems |
|
Definition
| Pretty much everything and all of them |
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|
Term
| Majority of mitochondrial proteins are found in: mtDNA or nDNA |
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Definition
|
|
Term
| Class I mitochondrial mutations are mutations in what |
|
Definition
|
|
Term
| Class II mitochondrial mutations are mutations in what |
|
Definition
|
|
Term
| Class III mitochondrial mutations are mutations in what |
|
Definition
| Deletions and duplications in mtDNA |
|
|
Term
|
Definition
| Exclusively normal or mutant mitochondria passed to offspring |
|
|
Term
|
Definition
| Mix of normal and mutant mitochondria passed to offspring |
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|
Term
| Tissues typically hardest hit with mitochondrial mutations (3) |
|
Definition
| 1) Brain, 2) heart, 3) skeletal muscle |
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|
Term
| Which has a higher mutation rate: mtDNA or nDNA |
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Definition
|
|
Term
| Leber's hereditary optic neuropathy: genetic origin |
|
Definition
|
|
Term
| Leber's hereditary optic neuropathy: homoplastic or heteroplastic |
|
Definition
|
|
Term
| Leber's hereditary optic neuropathy: features (1) |
|
Definition
|
|
Term
|
Definition
|
|
Term
| MERRF: homoplastic or heteroplastic |
|
Definition
|
|
Term
|
Definition
| 1) Myocloni seizures, 2) myasthenia, 3) dementia, 4) short stature, 5) vomiting |
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|
Term
|
Definition
|
|
Term
| MELAS: homoplastic or heteroplastic |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| 1) Myoclonic seizures, 2) muscle weakness, 3) dementia, 4) short stature, 5) episodic vomiting |
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|
Term
|
Definition
|
|
Term
| KSS: homoplastic or heteroplastic |
|
Definition
|
|
Term
|
Definition
| 1) Paralysis of eyes, 2) cardiac arrhythmias, 3) lactic acidosis, 4) myopathy |
|
|
Term
| Leigh syndrome: genetic origin |
|
Definition
|
|
Term
| Leigh syndrome: features (5) |
|
Definition
| 1) Bilateral MRI abnormalities in brain stem, 2) regression, 3) ataxia, 4) optic atrophy, 5) elevated lactic acid |
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|
Term
|
Definition
| Prevalence of family over population (relative risk) |
|
|
Term
| If familial risk _=1 then: inherited or not |
|
Definition
| Not inherited since same risk as population |
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|
Term
| If familial risk _>1 then: inherited or not |
|
Definition
| Inherited since risk is greater than population |
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|
Term
| Twin studies of variance of a trait: h^2=0 means exclusively: environment or genetic |
|
Definition
|
|
Term
| Twin studies of variance of a trait: h^2=1 means exclusively: environment or genetic |
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Definition
|
|
Term
| Carrier frequency of S hemoglobin and in what population |
|
Definition
|
|
Term
| Carrier frequency of cystic fibrosis and in what population |
|
Definition
| 1/25 in Northern Europeans |
|
|
Term
| Carrier frequency of Tay-Sachs and in what population |
|
Definition
|
|
Term
|
Definition
|
|
Term
| Hardy-Weinberg law (binomial expansion) |
|
Definition
|
|
Term
| Assumptions of Hardy-Weinberg (4) |
|
Definition
| 1) Large population, 2) alleles equally fit, 3) random mating, 4) no mutation/migration/selection |
|
|
Term
| Allele frequency forces (7) |
|
Definition
| 1) Mutations, 2) drift, 3) migration, 4) non-random mating, 5) founder effects, 6) bottleneck, 7) selection |
|
|
Term
| Mutation affects allele frequencies: minimally or significantly |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Small groups migrating in/out of population |
|
|
Term
| Non-random mating reduces what |
|
Definition
|
|
Term
|
Definition
| Small group founds new population |
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|
Term
|
Definition
| Survivors of natural disasters essential become founders |
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|
Term
| Primary force that leads to evolutionary divergence |
|
Definition
|
|
Term
| Sickle cell anemia: genetic origin |
|
Definition
| Mutation of beta hemoglobin |
|
|
Term
| Sickle cell anemia: features (3) |
|
Definition
| 1) Anemia, 2) sickle-shaped RBC's, 3) resistance to malaria |
|
|
Term
| Testing vs. screening: which is done to everyone |
|
Definition
|
|
Term
| Testing vs. screening: which is done upon suspicion of something |
|
Definition
|
|
Term
| Screening program criteria (6) |
|
Definition
| 1) Well defined disorder, 2) reasonably frequent, 3) not reliably detected clinically, 4) significant harm if not caught, 5) interventions exist, 6) cost effective |
|
|
Term
|
Definition
| TP/(TP+FN) -- [See notes for genetic or EBCP since they beat this to death] |
|
|
Term
|
Definition
| TN/(TN+FP) -- [See notes for genetic or EBCP since they beat this to death] |
|
|
Term
| Positive predictive value= |
|
Definition
| TP/(TP+FP) -- [See notes for genetic or EBCP since they beat this to death] |
|
|
Term
| Negative predictive value= |
|
Definition
| FN/(TN+FN) -- [See notes for genetic or EBCP since they beat this to death] |
|
|
Term
|
Definition
| 1) Newborn, 2) high-risk, 3) prenatal, 4) adult onset |
|
|
Term
| Newborn screening diseases (15; yeah, lots) |
|
Definition
| PKU, galactosemia, biotinidase, MSUD, homocytinuria, tyrosinemia, FAOD; congenital hypothyroidism, congenital adrenal hyperplasia; hemoglobinopathies, thalassemis, G6PD; cystic fibrosis; toxoplasmosis, HIV |
|
|
Term
| Newborn screening test should have high what: sensitivity, specificity, PPV, NPV |
|
Definition
|
|
Term
|
Definition
| 1) Law of segregation, 2) Law of independent assortment |
|
|
Term
| 1 centiMorgan = how many base pairs apart? |
|
Definition
| Trick question: there is no direct correspondence between cM & base pair distance |
|
|
Term
| 1 centiMorgan = how many base pairs apart if average over the whole genome? |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| Any detectable variant whose position is known |
|
|
Term
| Useful genetic marker aspects (2) |
|
Definition
| 1) Easily detected genetic marker, 2) allele frequencies such that heterozygotes are common |
|
|
Term
| Length of nucleotide sequences for short tandem repeat polymorphisms |
|
Definition
|
|
Term
| Molecular technique used with short tandem repeat polymorphisms |
|
Definition
|
|
Term
| Molecular technique used with single nucleotide polymorphisms |
|
Definition
| Hybridization; microarrays |
|
|
Term
| Easier observation of a disease if there are few or lots of alleles |
|
Definition
| Lots: more likely affected individual is heterozygous |
|
|
Term
| Linkage analysis on family procedure steps (3) |
|
Definition
| 1) Make a pedigree, 2) test family members with and without disease, 2) look for marker alleles with same pattern as disease in pedigree |
|
|
Term
| Linkage analysis on family is easiest if (2) |
|
Definition
| 1) Many affected family members, 2) autosomal dominant disease |
|
|
Term
| Advantage of linkage analysis (2) |
|
Definition
| 1) No pathophysiological hypothesis required, 2) rapid mapping to locus |
|
|
Term
| Disadvantages of linkage analysis (2) |
|
Definition
| 1) Need large families with disease, 2) must still, then, find the gene |
|
|
Term
|
Definition
|
|
Term
| What is the odds ratio when calculating the LOD score |
|
Definition
| Likelihood of co-inheritance of linkage over likelihood of co-inheritance of chance |
|
|
Term
| Each meiosis contributes how much numerically to the LOD score |
|
Definition
|
|
Term
| How many meioses are needed to reach the magical LOD 3 |
|
Definition
|
|
Term
|
Definition
| Group of alleles from 2+ closely linked loci on the same chromosome |
|
|
Term
| HLA locus is an example of what |
|
Definition
|
|
Term
| Linkage disequilibrium often violates what |
|
Definition
| Hardy-Weinberg assumptions |
|
|
Term
| Advantages of association studies (3) |
|
Definition
| 1) No need for large families like for linkage analysis, 2) may yield smaller regions, 3) may detect moderate risk genes |
|
|
Term
| Disadvantages of association studies (4) |
|
Definition
| 1) Only works with 1 or few mutations, 2) type cohorts with more markers, 3) type control populations & patients, 4) controls need to be well-matched |
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|
