Term
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Definition
* phenotype of heterozygous is midway btw homozygotes (blending of alleles) (ex= pink flowers)
*has a distinctive phenotype in heterozygotes
*RARELY found in humans= Sickle Cell Anemia |
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Term
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Definition
*recessive trait (ss)where one aa error in hemoglobin's beta chain alters cell shape, quality problem, weakness, stem cells try to make more bone marrow and cant-->paralysis (blood clots)
*can be found as an incomplete dominant trait therefore has (Ss) resistant to malaria |
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Term
| Familial Hypercholesterolemia |
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Definition
*causes arterial plaque formation
*Dominant trait, can be incomplete dominance
*missing or defective receptors cause accumulation of LDL
*Hetereozygous= ~1/2 the receptors--> elevates cholesterol; homozygous dominant state lacks receptors |
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Term
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Definition
| two different alleles of a gene (heterozygote) have equal expression in phenotype |
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Term
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Definition
*more than 2 alleles exist for a trait
*any individual only has 2 copies of the gene, one from each parent |
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Term
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Definition
*example of multiple alleles (IA,IB,IO)
*O allele doesnt make antigen on their cells, no protein |
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Term
| 3 Things that much match to be an organ donor for somone |
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Definition
1) Rh Factor
2) ABO Blood alleles
3) HLAs, hardest to match b/c alot of options |
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Term
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Definition
| A rare condition, where a mutation in an unrelated gene prevents phenotypic expression of the A and B phenotypes, hh= blocked from adding A or B antigen to surface of cells making them phenotypically blood type O, even though genotypically they carry IA or IB alleles, case of epistatic gene interaction |
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Term
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Definition
| 3 Alleles --> G, G' OR GD, and g, 6 different genotypes, GG'g, protein galactose builds up-->neurological dysfunction, GG=100% of protein, GG'=75% of protein, G'G'=~25% of protein (monitor diet closely), gg=no Protein (must eliminate all galactose from diet) |
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Term
| HLAs (Human Leukocyte Antigens) |
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Definition
| each gene has 100s of alleles, all found on cs 6 |
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Term
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Definition
| a form of gene interaction in which one gene prevents or masks the expression of a second gene; A,B, AND AB blood types can be influenced by epistasis in VERY RARE cases |
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Term
| 6 Patterns of Inheritance, ways in which genetic disorders can be inherited |
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Definition
1) autosomal recessive
2) autosomal dominant
3)X-linked dominant
4) X-linked recessive
5)Y-linked inheritance
6) mitochondrial inheritance |
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Term
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Definition
*unaffected parents can naturally produce affected offspring
*gene does not make aa chain or protein |
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Term
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Definition
*autosomal recessive trait
*phenotype= absence of pigment in skin, eyes, hair
*lack of tyrosinase does not allow melanin production
*exhibits epistasis: one gene interfering with another (epistatic to melanin gene)
*occular albino= dont have ability to hold pigment in Iris, cant adjust for light, iris is always open, light goes through, excess light on retina causes red eyes (blood) can eventually cause blindness |
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Term
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Definition
*phenotype= excess accumulation of phenylalanine in blood; mental retardation
*lack of phenylalanine hydroxylase (PAH) does not allow phenylalanine to be broken down to tyrosine
*accumulation of phenylalanine causes brain cell death
*19 normal aa, in animal products like meat, cheese, eggs, milk |
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