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33 Cards in this Set

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Any of the alternative forms of a given gene


Prenatal test in which a small sample of the amniotic fluid surrounding the fetus is removed and examined


All chromosomes other than the sex chromosome

CVS (Chorionic villus sampling)

Prenatal test that involves taking a tiny tissue sample from outside the sac where the fetus develops. It is performed between 10-12 weeks after a now-pregnant woman's last menstrual period

Chromosomal aberration

Alteration in the number or physical structure of chromosomes


DNA molecule that contains genes in linear order to which numbers proteins are bound


A sequence of three adjacent nucleotides in an mRNA molecule, specifying either an AA or a stop signal in protein synthesis


degree of relationship between persons who descend from a common ancestor


Feature of the genetic code in which an AA corresponds to more than one codon


loss of chromosomal material

Germinal mutation

a mutation that takes place in a reproductive cell


Macromolecule usually composed of 2 polynucleotide chains in a double helix that is a carrier of genetic information in all cells


refers to an allele whose presence in a heterozygous genotype results in a phenotype characteristic of the allele


A region of DNA containing genetic information, which is usually transcribed into an RNA molecule that is processed and either functions directly or is translated into a polypeptide chain; the hereditary unit


systematic study of an organism's genome using large-scale DNA sequencing gene-expression analysis, or computational methods


Describes an individual who has only one member of a chromosome pair or chromosome segment rather than the usual two; refers in particular to X-linked genes in males who under usual circumstances have only one X-chromosome.

Heterozygous/ Homozygous

Carrying dissimilar/same alleles of one or more genes

Inborn errors of metabolism

a genetically determined biochemical disorder, usually in the form of an enzyme defect that produces metabolic block


a structural aberration in a chromosome in which the order of several genes is reversed from the normal order

Klinefelter syndrome

A disorder that occurs when an ovum with an extra X chromosome is fertilized by a sperm with a Y chromosome. This results in an XXY genotype male who is sterile


site of a particular gene on a chromosome


an RNA molecule that is transcribed from a DNA sequence and translated into the aa sequence of a polypeptide


of, relating to, or controlled by a single gene, especially by either of an allelic pair


a condition in an otherwise diploid organism in which one member of a pair of chromosomes is missing


Failure of chromosomes to separate (disjoin) and move to opposite poles of the division spindle; the result is loss or gain of a chromosome.


genetic disorder resulting from the combined action of alleles of more than one gene


condition of a diploid cell or organism that has three or more copies of a particular chromosome


the process by which the information contained in a template strand of DNA is copied into a single-stranded RNA molecule of complementary base sequence


a small RNa molecule that translates a codon into an AA in protein synthesis, it has a 3 base, (anti codon), complementary to a specific codon in mRNA and a site to which a specific AA is bound


the process by which the amino acid sequence of a polypeptide is synthesized on a ribosome according to the nucleotide sequence of an mRNA molecule


a mutation results from an exchange of parts of 2 chromosomes

Truncated protein

protein that does not achieve its full length or its proper form and thus is missing some of the AA residues that are present in a normal protein. Cannot fully function

Turner syndrome

monosomy syndrome that results when an ovum lacking the X chromosome is fertilized by a sperm that contains an X chromosome. The result is an offspring with 22 pairs of autosomes and a single, unmatched x chromosome.