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Definition
| Small number of genes show only expression of maternal or paternal allele |
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| sequence of DNA that is required for production of a functional product. |
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Definition
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| globin gene clusters are found mainly on what two chromosomes |
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Definition
Dead genes, were once functional
Inactivated by mutations in coding and reguatory sequences
Retain exon-intron structure |
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Definition
Formed by retrotransposition
Involves transcription, generation of a cDNA on the basis of a mRNA (reverse transcription), and integration in the genome
Do NOT have any introns or upstgream regulatory DNA sequences |
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Definition
More than 250 different miRNAs known
22 nucleotides in length
At least some control expression or repression of genes during development |
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Definition
| what polymerase is in ivolved in making mRNA |
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Definition
two related promoter sequences, strand-specific
Each strand transcribed entirely
Primary transcripts processed |
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| what is the main promotor of the Beta globin gene |
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Definition
lack TATA box and CAAT box
Contain GC islands instead
Thought to serve as binding sites for specific transcription factors
Targets for DNA methylation |
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Definition
Cis-acting elements
Act at a distance
Position and orientation independent |
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Definition
Located upstream of e.g., globin genes
Required for
Establishing proper chomatin context
Temporal and spatial high level expression |
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Definition
| Some patients with β-thalassemia have mutations in this sequence |
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| when do immunoglobin and t cell receptors undergo somatic rearrangement? |
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Definition
| Name the three domains of the heavy chain |
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Definition
Shares mechanism of somatic rearrangements
Highly variable transmembrane glycoprotein
Key role in antigen recognition and T-cell function
All chains have both C and V regions (no fine tuning or somatic point mutations) |
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Term
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Definition
| Somatic rearrangements for Ig and TCR occur only on ONE of the alleles in B and T-cells |
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Definition
| the human genome has about how many EcoRi sites |
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Definition
| linear, requires presence of centromere, telomeres, and at least two selectable markers |
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Definition
| what is the library that contains only exons? |
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Definition
| what do you use togenerate the first DNA strand? |
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Definition
| what polymerase generates second DNA strand |
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Definition
| what do you use to screen a genomic library |
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Definition
| what do you use to screen a cDNA library |
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Definition
| what do you use to screen a cDNA library |
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Definition
| find and examine specific fragments |
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Definition
| detect and measure amount of specific transcript |
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Term
| Allele-Specific Oligonucleotides |
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Definition
| type of analysis used for CF and sickle cell anemia |
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Definition
Measures the amount of a particular DNA sequence in a sample
Early reaction and semilogarithmic plot |
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Term
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Definition
| the more template present in quantitative PCR the ___ amount of cycles it will take to reach the thresh-hold |
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Definition
Employs dideoxy nucleotides
Lack oxygen at 3’ carbon of deoxyribose
Terminates chain elongation |
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Definition
Chips on which small amounts of nucleic acids (DNA or mRNA) are immobilized in a dense 2D array of thousands of tiny wells
Based on high resolution fluorescent signals and images
Area only a few cm2
Allows analysis of entire genomes or large collections of mRNA in one single experiment |
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Definition
Used in cytogenetics, for examination of unique sites
DNA fixed in tissue or cultured cells and denatured in place
Hybridization against probe
Detection with fluorescent light |
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Term
| Comparative Genome Hybridization |
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Definition
Used for detection of small structural chromosome mutations (1 - 2 Mb)
Deletions, duplications, insertions
Escape routine metaphase karyotyping
May result in birth defects or cancer
Measures difference between two different DNA samples in copy number |
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Definition
Analyzes large number of cell/tissue specific transcripts simultaneously
use this when Regular Northern blot insufficient |
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Definition
| disease with no dystrophin |
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Definition
| Single defective allele at a locus, on one or both members of a pair of chromosomes |
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Definition
| given set of alleles at a locus OR cluster of loci on a chromosome |
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Definition
| occurrence of two or more normal alleles at a locus in the population. |
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| Phenotype is different from both homozygous phenotypes and severity is intermediate between them |
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Definition
| normal physiology requires more than 50% of gene product |
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Definition
abnormal protein interferes with function of gene product from normal allele
Ex: Osteogenesis imperfecta |
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Definition
Enhanced function of mutated gene product may lead to toxicity
Ex: Achondroplasia, Huntington’s disease |
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Definition
| Probability that a gene will have any phenotypic expression at all |
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Definition
| phenotypes that are similar but are actually determined by different genotypes |
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Definition
Retinis pigmentosa: Currently 3 X-linked, 12 AD and 5 AR forms
Ehlers-Danlos Syndrome:these disease are associated with what type of heterogeneity |
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Definition
| cystic fibrosis, multiple endocrine neoplasia, hirschsprung disease are all examples of what type of hetereogeneity |
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