Mar 31, 2011

Vocabulary of Concepts of Ch.12: Human Genetics

Abortion
Premature, spontaneous or induced expulsion of the embryo or fetus from uterus.

Aneuploidy
Having one extra or one less chromosome relative to the parental chromosome number.

Autosome
Any chromosome of a type that is the same in males and females of the species.
Crossing over
At prophase I of meiosis, an interaction in which non-sister chromatids of a pair of homologous chromosomes break at corresponding sites and exchange segments; genetic recombination is the result.

Deletion
At cytological level, loss of a segment from a chromosome. At molecular level, loss of one to a few base pairs from a DNA molecule.

Disease
Outcome of infection when defenses aren't mobilized fast enough and a pathogen's activities interfere with normal body functions.

Double-blind study
Different investigators independently collect, then compare data.

Duplication
Gene sequence repeated several to many hundreds or thousands of times. Even normal chromosomes have such sequences.

Genetic abnormality
A rare or less common version of a heritable trait.

Genetic disorder
Any inherited condition that causes mild to severe medical problems.

Genetic recombination
Result of any process that puts new genetic information into a DNA molecule.

Homologous chromosome
Of cells with a diploid chromosome number, one of a pair of chromosomes identical in size, shape, and gene sequence, and that interact at meiosis.

In-vitro fertilization
Conception outside the body.

Independent Assortment
Mendelian theory that by the end of meiosis, each pair of homologous chromosomes are sorted before shipment to gametes independently of how the other pairs were sorted.

Inversion
Part of a chromosome that became oriented in reverse, with no molecular loss.



Karyotype
Preparation of metaphase chromosomes sorted by length, centromere location, other defining features.

Linkage group
All genes on a chromosome.

Mosaicism
Cells of same type express genes differently, so phenotypic differences emerge in same type of tissue. E.g., occurs by X chromosome inactivation in female mammals; also by nondisjunction in any cell after fertilization.

Non-disjunction
Failure of sister chromatids or a pair of homologous chromosomes to separate during meiosis or mitosis. Daughter cells end up with too many or too few chromosomes.


Polyploidy
Having three or more of each type of chromosome in the nucleus of a eukaryotic cell at interphase.


Reciprocal Cross
A paired cross. In the first cross, one parent displays the trait of interest. In the second, the other parent displays it.


Sex chromosome
A chromosome with genes that affect sexual traits. Depending on the species, somatic cells have one or two sex chromosomes of the same or different type (e.g., in mammals, XX females, XY males).

Syndrome
A set of symptoms that may not individually be a telling clue but collectively characterize a genetic disorder or disease.


Translocation
Of cells, movement of a stretch of DNA to a new chromosomal location with no molecular loss. Of vascular plants, distribution of organic compounds by way of phloem.


X chromosome
A type of sex chromosome. An XX mammalian embryo becomes female; an XY pairing causes it to develop into a male.


Y chromosome
A type of sex chromosome. An XX mammalian embryo becomes female; an XY pairing causes it to develop into a male.


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