Mutation - Any change in gene structure, which alters the type and amount of protein produced., Variable Expression - Occurs in autosomal dominant disorders where there may be no family history, Genotype - Specific Genetic Makeup of an individual, usually in the form of DNA, and is the internally coded inheritable information, Phenotype - Observed, outward characteristics of an individual, Homozygous - Having two similar genes at the same locus, or site, on paired chromosomes, Heterozygous - Having two dissimilar genes at the same site or locus, on paired chromosomes, Congenital Defect - Present at birth, Karyotype - Pictorial analysis of the number, form, and size of an individual's chromosomes, Monosomy - Union between a normal gene and one that is missing a chromosome, Recessive Trait - Trait or disorder expressed or phenotypically apparent only when two copies of the alleles are associated with the trait are present, Dominant Trait - A trait or disorder expressed or phenotypically apparent when only one copy of an allele associated with the trait is present, Alleles - Alternative forms of genes, Loci - Location of a gene on a chromosome, Sex Chromosomes - Associated with the determination of gender. Female has two X chromosomes, and a male has one X and one Y chromosome, Autosomes - Any of the paired chromosomes other than the sex (X and Y), Homologous - Similar in structure or origin but not necessarily in function, Genes - Basic physical unit of inheritance passed from parent to offspring. Contains information needed to specify traits, Chromosome - DNA molecule with part or all of the genetic material of an organism, DNA - Hereditary material carried in the nucleus of each of the somatic cells, and determines and individuals characteristics,

GENES & TERMS

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