Glossary Human Genetics and Chromosomes

X chromosome A type of sex chromosome. An XX mammalian embryo becomes

female; an XY pairing causes it to develop into a male.
X-linked gene A gene on an X chromosome.
X-linked recessive Recessive condition in which the responsible, mutated gene is located
inheritance on the X chromosome.
Y chromosome Distinctive chromosome in males or females of many species, but not
both (e.g., human males are XY; human females are XX).
Y-linked gene Gene on a Y chromosome.
abortion Premature, spontaneous or induced expulsion of the embryo or fetus
from uterus.
allele One of two or more molecular forms of a gene that arise by mutation
and code for different versions of the same trait.
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 nonsister 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.
duplication Gene sequence repeated several to many hundreds or thousands of
times. Even normal chromosomes have such sequences.
family pedigree Chart of genetic relationship of family individuals through the
generations.
gene [German pangan, after Gk. pan, all; genes, to be born] Unit of
information for a heritable trait, passed from parents to offspring.
genetic
A rare or less common version of a heritable trait.
abnormality
genetic disorder Any inherited condition that causes mild to severe medical problems.
genetic Result of any process that puts new genetic information into a DNA
recombination molecule (e.g., by crossing over).
homologous [Gk. homologia, correspondence] Of cells with a diploid chromosome
chromosome number, one of a pair of chromosomes identical in size, shape, and
gene sequence, and that interact at meiosis. Nonidentical sex
chromosomes (e.g., X and Y) also interact as homologues during
meiosis.
in vitro
Conception outside the body (in glass petri dishes or test tubes).
fertilization

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independent Mendelian theory that by the end of meiosis, each pair of homologous
assortment theory chromosomes (and linked genes on each one) are sorted before
shipment to gametes independently of how the other pairs were
sorted. Later modified to account for the disruptive effect of crossing
over on linkages.
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.
nondisjunction 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.
pedigree Diagram of the genetic connections among related individuals through
successive generations; uses standardized symbols.
polyploidy Having three or more of each type of chromosome in the nucleus of
cells at interphase (3n, 4n, etc.).
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 A stretch of DNA that moved to a new location in a chromosome or in
a different chromosome, with no molecular loss.
wild-type allele Allele that occurs normally or with greatest frequency at a given gene
locus among individuals of a population.

Website

Go to this site and under “Hot Spots”, choose “Genes and Disease”. Check out the info
concerning various genes.

http://www.ncbi.nlm.nih.gov/