Term
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Definition
| single set of chromosomes, germline cells (23 for human) |
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Term
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Definition
| double set of chromosomes, somatic cells (46 for human) |
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Term
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Definition
| >2 complete sets of chromosomes, normally in liver, heart, and megakaryocytes |
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Term
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Definition
| abnormal number of chromosomes that are not exact multiples of the haploid number (45 or 47 for human) |
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Term
| autosomal or somatic cells |
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Definition
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Term
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Definition
| when a cell divides into 4 haploid daughter cells, occurs during formation of gametes, chromosome assortment is random |
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Term
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Definition
| when a cell divides into 2 identical diploid cells |
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Term
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Definition
| chromosomal cross-over usually during meiosis, enhances genetic diversity, allows for production of antibodies |
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Term
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Definition
| sections of chromosomes have been deleted, duplicated, or translocated |
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Term
| non-homologous chromosomal translocation |
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Definition
| sections of non-homologous chromosomes are exchanged, genes at exchange have altered expression, philadelphia chromosome: chronic myelogenous leukemia from CML-abl protein kinase fusion, Burkitt's lymphoma: increased c-myc proto-oncogene expression |
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Term
| autosomal dominant inheritance |
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Definition
| # affected males = # females, unaffected usually do not transmit disease, if heterozygous - disease transmitted to 50% of offspring, if homozygous - disease transmitted to 100% of offspring, vertical pattern of inheritance, ex. marfans, huntington's, retinoblastoma |
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Term
| autosomal recessive inheritance |
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Definition
| parents are normally heterozygous and healthy (carriers), increased with inbreeding, ex. metabolic diseases like ADA deficiency, cystic fibrosis, PKU, horizontal pattern of inheritance |
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Term
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Definition
| males are hemizygous (only 1X), male transmits only to daughters and to all daughters |
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Term
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Definition
| if heterozygous female - 50% sons affected, daughters may be carriers, if homozygous female - all sons affected, all daughters carriers, affected male - daughters are carriers, sons are unaffected, ex. color blindness, muscular dystrophy |
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Term
| multifactoral inheritance |
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Definition
| complex - doesn't obey mendlian rules, interaction of multiple genes and environmental factors, ex. allergies, HTN, type II diabetes, some cancer |
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Term
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Definition
| DNA fragment put into cloning vector (plasmid), put into host cell and propagated, ex. insulin |
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Term
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Definition
| cures diseases by correcting known genetic errors, uses viral vector to deliver gene of interest, ex. ADA, only in somatic cells |
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Term
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Definition
| id of genetic basis of disease required, safe and efficient delivery system (AAV-adeno-associated virus, retrovirus, naked DNA), understanding of mech. of gene regulation |
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Term
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Definition
| spontaneous associationg of complementary nucleic acid chain, DNA-DNA, RNA-RNA, RNA-DNA |
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Term
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Definition
| hybridization, probe added for detection of specific sequences, utility: is mRNA expressed? how much mRNA is expressed? how large is a mRNA? |
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Term
| southern blotting/DNA fingerprinting |
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Definition
| PCR, separate fragments by gel electrophoresis, attach DNA probe |
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Term
| DNA microarray (chip) technology |
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Definition
| simultaneous quantification of all mRNAs in sample, mix control and treated/diseased but labeled differently, hybridize DNA chip with mixture, chip is read and computer calculates abundance |
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Term
| "messing" with genetic information |
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Definition
| general principles: nucleic acid isolation, denaturation, probe annealing, detection, and quantification |
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Term
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Definition
| globally evaluating all proteins expressed in a cell, eventually will be possible to compare complex mixtures of proteins |
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Term
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Definition
| differences found in a population, like allele variations, genetic polymorphisms, phenotypic polymorphisms |
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Term
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Definition
| genetic differences between individuals at a locations that is represented in <1% of population |
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Term
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Definition
| allelic variation at position that occurs in >1% of human population |
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Term
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Definition
| observable difference between individuals, ex. diff in drug metabolism |
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