Genetics -Ch 1

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Allele

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Any of the alternative forms of a given gene

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Amniocentesis

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

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Autosomes

Back 3

All chromosomes other than the sex chromosome

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CVS (Chorionic villus sampling)

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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

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Chromosomal aberration

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Alteration in the number or physical structure of chromosomes

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Chromosome

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

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Codon

Back 7

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

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Consanguinity

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degree of relationship between persons who descend from a common ancestor

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Degenerate

Back 9

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

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Deletion

Back 10

loss of chromosomal material

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Germinal mutation

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a mutation that takes place in a reproductive cell

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DNA

Back 12

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

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dominant

Back 13

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

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Gene

Back 14

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

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Genomics

Back 15

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

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Hemizygous

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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.

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Heterozygous/ Homozygous

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Carrying dissimilar/same alleles of one or more genes

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Inborn errors of metabolism

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

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Inversion

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

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Klinefelter syndrome

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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

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Locus

Back 21

site of a particular gene on a chromosome

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mRNA

Back 22

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

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Monogenic

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

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Monosomy

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

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Nondisjunction

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

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polygenic

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

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polysomy

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

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Transcription

Back 28

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

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tRNA

Back 29

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

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Translation

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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

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Translocation

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a mutation results from an exchange of parts of 2 chromosomes

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Truncated protein

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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

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Turner syndrome

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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.