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Genetics and Chromos
Terms
| Question | Answer |
|---|---|
| Angelman Syndrome | A combination of birth defects caused by inheriting both copies of a section of the # 15 chromosome from the father. |
| Autosomal Dominant Inheritance | A gene on one of the first 22 pairs of chromosomes, which, when present in one copy, causes a trait or disease to be expressed. |
| Autosomal Recessive Inheritance | A gene on one of the first 22 pairs of chromosomes, which, when present in two copies, caused a trait or disease to be expressed. |
| Autosome | One of the first 22 pairs of chromosomes. |
| Carrier | A person who carries one copy of an altered gene for a particular recessive disease. |
| Centromere | The center part of a chromosome that appears "pinched" between the p and q arms. |
| Chromosome | A structure in the nucleus of cells, which contains genes. |
| Codon | A triplet of three letters (base pairs) of the DNA alphabet. |
| Cri du Chat syndrom | A rare combination of birth defects caused by a deletion of chromosomes 5p. |
| Cystic Fibrosis | An inherited autosomal recessive condition that causes the secretion of abnormal mucus in the lungs and problems with pancreas function and food absorption. |
| Deletion | The loss of a chromosome segment without altering the numbers of chromosomes. |
| Diploid | Cells that contain homologous chromosomes. The number of chromosomes in the cells is the diploid number and is equal to 2n (n is the number of homologous pairs). |
| Down Syndrome | A combination of birth defects caused by the presence of an extra #21 chromosomes. |
| Eukaryote | A type of cell found in many organisms including single-celled protists and multicellular fungi, plants, and animals; characterized by a membrane-bounded nucleus and other membraneous organelles; an organism composed of such cells. |
| Fraxile-X Syndrome | A combination of health problems caused by an abnormally high number of trinucleotide repeats in the FMR-1 gene. |
| Galactosemia | An inherited recessive disorder which is a disease tested for by newborn screening. Dietary treatment is available for this disorder. |
| Gene | A segment of DNA that produces a protein product; genes determine traits. |
| Haploid | Cells that contain only one member of each homologous pair of chromosomes (haploid number = n). At fertilization, two haploid gametes fuse to form a single cell with a diploid number of chromosomes. |
| Hemizygous | Having only a single copy of a gene instead of the customary two copies. All of the gene on the single X chromosomes in the male are in the hemizygous state. |
| Heterozygous | Having two different alleles (one dominant, one recessive) of a gene pair. |
| Homologues | A pair of chromosomes in which one member of the pair is obtain from the organism's maternal parent and the other from the paternal parent; found in diploid cells. Also commonly referred to as homologous chromosomes. |
| Homozygous | Having identical alleles for a given gene. |
| Inheritance | Inheritance is a word used to describe a trait given to you or "passed on" to you from one of your parent. Examples of inherited traits would be your eye color of blood type. |
| Karyotype | A picture of the 46 chromosomes, lined up into 23 pairs. |
| Meiosis | Definition 1- The cell division process that eggs and sperms to through with halves the chromosome number from 46 to 23. Definition 2- Cell division, in which the chromosomes replicate, followed by two nuclear divisions. Each of the resulting gametes ( |
| Mitosis | The cell division process that other cells, besides eggs and sperm go through. 2. The division of the cell's nuclear and nuclear material of a cell; consists of four stages: prophase, metaphase, anaphase, and telophase. Cell xeroxing. Mitosis occur only |
| Monosomy | Having a single copy of a chromosome, rather than the usual pair. |
| Non-disjunction | An error in cell division where the chromosomes fail to disjoin, so that both pass to the same daughter cell. |
| Phenylketonuria (PKU) | An inherited recessive disorder which is a disease tested for by newborn screening and often treatable by diet. |
| Polysomy | Congenital defect of having one or more extra chromosomes in somatic cells. |
| Ring chromosome | A chromosome whose ends stick together to form a circle or ring. |
| Sex chromosomes | The 23rd pair of human chromosomes which determine gender; females have two X chromosomes; males have X and Y chromosomes. |
| Translocation | When the location of specific chromosomes material moves to another chromosomes. |
| Trisomy | Having three copies of one chromosome, rather than two copies. |
| Trisomy 13 | The presence of three #13 chromosomes, also known as Patau syndrome. |
| Trisomy 18 | The presence of three #18 chromosomes, also known as Edwards syndrome. |
| Trisomy 21 | the presence of three #21 chromosomes, also known as Down Syndrome. |
| Turner syndrome | A combination of health problems caused by the absence of one sex chromosomes, leaving a single X chromosomes, or 45 total. |
| X-linked Inheritance | A gene on the X chromosomes passed through a family, resulting in a specific trait or disease to be seen more commonly in males and females. |