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Human Genetics Vocab
Biology Human Genetics Vocabulary Terms
| Question | Answer |
|---|---|
| Chromosome map | A diagram of allele positions on a chromosome |
| Deletion | A mutation in which a segment of DNA breaks off a chromosome |
| Frame shift mutation | A mutation that results in misreading of the code during translation because of a change in the reading frame |
| Germ-cell mutation | A change in the DNA of a sex cell |
| Inversion | A mutation that occurs when a chromosome piece breaks off and reattaches in reverse orientation |
| Lethal mutation | A mutation that causes death before birth |
| Linkage group | The group of genes located on the same chromosome that are usually inherited together |
| Map unit | A unit in chromosome mapping equal to a 1 percent occurrence of crossing-over |
| Nondisjunction | The failure of homologous chromosomes to separate during meiosis or the failure of sister chromatids to separate during mitosis |
| Point mutation | The change of a single nitrogen containing base within a codon |
| Sex linkage | The presence of a gene on a sex chromosome |
| Sickle cell anemia | A disease caused by abnormally shaped hemoglobin molecules and creates impaired blood circulation and organ damage |
| Somatic mutation | A mutation that occurs in a body cell |
| Substitution | A point mutation in which one nucleotide in a codon is replaced with a different nucleotide |
| Translocation | A mutation in which a broken piece of chromosome attaches to a nonhomologous chromosome |
| X-Linked Gene | A gene found on the X chromosome |
| Y-Linked Gene | A gene found on the Y-chromosome |
| Amniocentesis | A procedure used in fetal diagnosis in which the fetal cells are removed from the amniotic fluid |
| Carrier | Individuals who have one copy of a recessive autosomal allele and do not express a trait but pass it on to their offspring |
| Chorionic villi sampling | A procedure involving the analysis of the chorionic villi to diagnose fetal blood types |
| Colorblindness | An individual cannot distinguish between certain colors |
| Down syndrome | A disorder caused by an extra twenty-first chromosome and characterized by a number of physical and mental abnormalities |
| Duchenne muscular dystrophy | A form of muscular dystrophy that weakens and progressively destroys muscle tissue |
| Genetic counseling | The process of informing a couple about their genetic makeup which has the potential to affect their offspring |
| Genetic disorder | A disease that has a genetic basis |
| Genetic marker | A short section of DNA that indicates the presence of an allele that codes for a trait |
| Genetic screening | An examination of a person’s genetic make up |
| Hemophilia | A trait in which the blood lacks a protein that is essential for clotting |
| Huntington’s disease | A human genetic disorder caused by a dominant allele resulting in involuntary movements mental deterioration |
| Monosomy | A condition in a diploid cell in which one chromosome of one pair is missing as a result of nondisjunction during meiosis |
| Multiple-allele trait | A trait controlled by three or more alleles |
| Pattern of inheritance | Phenotypes are inherited in a predictable pattern from one generation to the next |
| Pedigree | A diagram of the genetic history of an individual that shows how a trait is inherited over several generations |
| Pheylketonuria | A genetic disorder in which the body cannot metabolize phenylalanine |
| Polygenic trait | A trait controlled by multiple genes |
| Sex-influenced trait | A trait that is influenced by the presence of male or female sex hormones |
| Single-allele trait | A trait controlled by a single allele |
| Trisomy | A chromosomal anomaly in which an individual has an extra chromosome in any of the chromosome pairs |
| Trisomy-21 | Down syndrome |