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- In conjunction with in vitro fertilization
- Cells removed from blastocyst
- Tested for gene variants, chromosomal disorders, sex determination
- "Healthy" embryos chosen for implantation
- Controversial
- Expensive
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1 Genetics 2 Cytochrome P450 Enzyme System
3 Preimplantation Genetic Diagnosis 4 Chromosome
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Terms in this set (84)
Genetics The study of the general mechanisms of heredity and the
variation of inherited traits
Genomics The study of the function of all the nucleotide sequences
present within the entire genome of a species, including
genes in DNA coding regions and in DNA noncoding regions
Gene Specific segment of DNA that contains the genetic code for a
specific protein
DNA The genetic material in a cell that contains genes
, Chromosome A temporary structure that is a large chunk of DNA containing
many genes
Proteins Complex molecules that are required for the structure,
function, and regulation of the body's tissues and organs
Allele Variation of a gene at a specific location
- Ex: three possible gene alleles for blood type A, B, O
Dominant Monogenic Traits Expressed even when two gene alleles for trait are different
Recessive Monogenic Traits Expressed only when both gene alleles are the same
Mutation When the sequence of the DNA of a gene is changed forever
Germline Sex chromosome (23)
Somatic Autosomes 1-22
Cytochrome P450 Enzyme System Responsible for the metabolism of many drugs
Dominant Trait A single-gene trait that is expressed regardless of whether the
two gene alleles are identical (homozygous) or different
(heterozygous)
Recessive Trait A single-gene trait that is expressed only when both gene
alleles for the trait are identical (homozygous)
Penetrance How often a gene is expressed within a population when it is
present
Expressivity Personal issue, rather than a population issue, in which the
degree of gene expression varies by the person who has a
dominant gene for a health problem
Genotype Exact gene allele composition for single gene trait
Phenotype Person's observed expression of any given single-gene trait
Homozygous Genotype and phenotype are the same
Heterozygous Genotype and phenotype are different
Autosomal Dominant Disorder - Single-gene
- On autosomal chromosome
- One of the parents will have the disease
- Each offspring has a 50% chance of inheriting the trait
- EXAMPLES: Huntington's Disease Neurofibromatosis-1;
Hereditary Nonpolyposis Colorectal Cancer (Lynch
Syndrome)