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| Chromosomal Theory of Inheritance |
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Definition
| Mendelian factors are located on chromosomes, which segregate and independently assort. |
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Proved that factors are located on chromosomes.
Experiments on fruit flies discovered sex linkage and linked genes. |
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| normal or frequently observed phenotype |
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Located on sex chromosomes, generally on the X.
EX: eye color |
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| located on the same chromosomes, tend to be inherited together. Do not assort independently. |
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| Production of offspring with new combinations of traits different from combinations found in parents; results from meiosis and random fertilization. |
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| Progeny with the same phenotype as one of the parents |
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| Progeny with phenotypes differing from either parent |
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| Morgan's student, determined that the probability of crossing over between two genes is directly proportional to the distance between them. |
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| locates genes with respect to chromosomal features, such as stained bands that can be viewed with a microscope |
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| Sequence mapping or DNA mapping |
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| determines the distances between gene loci measured in nucleotides |
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| produces two types of gametes, determines offspring's sex |
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| produces one kind of gamete |
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Humans and other species
Males have XY and females have XX. |
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Grasshoppers, crickets, roaches, and some other insects.
Males have XO and females have XX. |
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Birds, some fishes, and some insects including butterflies and moths.
Males have ZZ and females have ZW |
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Most species of bees and ants.
Females develop from fertilized eggs and are DIPLOID,
males develop parthenogenically and are HAPLOID. |
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Definition
| Reproduction by development of unfertilized egg. |
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| Having staminate and carpellate flowers on separate individuals |
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| A single plant produces both sperm and eggs |
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| In humans usually X-linked |
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| only one copy of a gene is present in a diploid organism (X chromosomes in males) |
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| Result of contraction of an X chromosome in females inactivated by DNA methylation, resulting in one functional X in females. |
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| Traits that appear exclusively in one sex but are determined by autosomal genes from both sexes (i.e. cow's milk yield) |
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| Sex-dependent variation in penetrance and expressivity of autosomal genes (i.e. baldness) |
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Definition
meiotic or mitotic error in which certain homologous chromosomes or sister chromatids fail to separate.
One gamete receives an extra chromosome and another receives no copy. |
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having an abnormal number of chromosomes
results if a normal gamete unites with an abnormal one resulting from nondisjunction |
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| Aneuploid cell with a chromosome in triplicate |
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| Aneuploid with a missing chromosome. |
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| Having chromosome number that is more than two complete sets. Common in plants but rare in humans. |
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| 3N; fertilization of an abnormal diploid egg. |
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| 4N; results if diploid zygote undergoes mitosis without cytokinesis |
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| deficiency of a chromosome which loses a fragment without a centromere, results from chromosome breaking or improper crossing over. |
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| A fragment joins a homologous chromosome, results from chromosome breaking or improper crossing over. |
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| A fragment joins a nonhomologous chromosome, results from chromosome breaking. |
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| A fragment reattaches to the original chromosome in reverse, results from chromosome breaking. |
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| Influence on a gene's expression because of its location among neighboring genes. |
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Trisomy 21
Characteristic facial features, short stature, heart defects and mental retardation. More likely to develop respiratory infections, leukemia, and Alzheimer's.
Most are sexually underdeveloped and sterile, but a few have children.
Incidence often correlates with maternal age. |
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Trisomy 13
Serious eye, brain, and circulatory defects. |
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Trisomy 18
Brain irregularities, heart, kidney, finger, and feet malformation, death usually within six months. |
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XXY or XXYY, XXXY, XXXXY, XXXXXY
Abnormally small testicles, sterility, feminine body contours, usually normal intelligence. |
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XYY
Normal male, usually larger than average |
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XXX
Limited fertility, possible mental retardation |
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XO (monosomy)
Short stature, secondary sexual characteristics fail to develop, internal sex organs do not mature, sterile |
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Definition
Deletion on chromosome 5.
Mental retardation, small head with unusual features, cry that sounds like mewling cat |
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Term
| Chronic myelogenous leukemia (CML) |
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Definition
| Portion of 22 switches with a small fragment of chromosme 5. |
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| Process that induces intrinsic changes in chromosomes inherited from males and females; causes certain genes to be differently expressed depending on whether the alleles were from the ovum or sperm cell. |
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| Prader-Willi Syndrome or Angelman Syndrome |
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Definition
Both caused by same deletion on chromosome 5.
Prader-Willi: paternal deletion; mental retardation, obesity, short stature, small hands and feet.
Angelman: maternal deletion; uncontrollable spontaneous laughter, jerky movements, other motor and mental symptoms. |
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Definition
| Common in males; an abnormal X from the mother with they tip hanging on the rest by a thin DNA strand; mental retardation |
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