Human genetics, study of the inheritance of characteristics by

children from parents. Inheritance in humans does not differ in any

fundamental way from that in other organisms.

Hereditary information is contained in genes, which are carried on chromosomes.

© James Cavallini—BSIP/age fotostock

BRITANNICA QUIZ

Genetics Quiz
 Who deduced that the sex of an individual is determined by a particular chromosome?

How many pairs of chromosomes are found in the human body? Test your knowledge.

Take this quiz.

The study of human heredity occupies a central position in genetics.

Much of this interest stems from a basic desire to know who humans
are and why they are as they are. At a more practical level, an
understanding of human heredity is of critical importance in the
prediction, diagnosis, and treatment of diseases that have a genetic
component. The quest to determine the genetic basis
of human health has given rise to the field of medical genetics. In
general, medicine has given focus and purpose to human genetics, so
the terms medical genetics and human genetics are often considered
synonymous.

The Human Chromosomes
A new era in cytogenetics, the field of investigation concerned with
studies of the chromosomes, began in 1956 with the discovery by Jo
Hin Tjio and Albert Levan that human somatic cells contain 23 pairs
of chromosomes. Since that time the field has advanced with amazing
rapidity and has demonstrated that
human chromosome aberrations rank as major causes of fetal death
and of tragic human diseases, many of which are accompanied
by intellectual disability. Since the chromosomes can
be delineated only during mitosis, it is necessary to examine material
in which there are many dividing cells. This can usually be
accomplished by culturing cells from the blood or skin, since only
the bone marrow cells (not readily sampled except during serious bone
marrow disease such as leukemia) have sufficient mitoses in the
absence of artificial culture. After growth, the cells are fixed on slides
and then stained with a variety of DNA-specific stains that permit the
delineation and identification of the chromosomes. The Denver system
of chromosome classification, established in 1959, identified the
chromosomes by their length and the position of the centromeres.
Since then the method has been improved by the use of special
staining techniques that impart unique light and dark bands to each
chromosome. These bands permit the identification of chromosomal
regions that are duplicated, missing, or transposed to other
chromosomes.

Micrographs showing the karyotypes (i.e., the physical appearance of

the chromosome) of a male and a female have been produced. In a
typical micrograph the 46 human chromosomes (the diploid number)
are arranged in homologous pairs, each consisting of one maternally
derived and one paternally derived member. The chromosomes are all
numbered except for the X and the Y chromosomes, which are the sex
chromosomes. In humans, as in all mammals, the normal female has
two X chromosomes and the normal male has one X chromosome and
one Y chromosome. The female is thus the homogametic sex, as all
her gametes normally have one X chromosome. The male is
heterogametic, as he produces two types of gametes—one type
containing an X chromosome and the other containing a Y
chromosome. There is good evidence that the Y chromosome in
humans, unlike that in Drosophila, is necessary (but not sufficient) for
maleness.

chromosome

Strands of human chromosomes.

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Fertilization, Sex Determination, And

Differentiation
A human individual arises through the union of two cells, an egg from
the mother and a sperm from the father. Human egg cells are barely
visible to the naked eye. They are shed, usually one at a time, from the
ovary into the oviducts (fallopian tubes), through which they pass into
the uterus. Fertilization, the penetration of an egg by a sperm, occurs
in the oviducts. This is the main event of sexual reproduction and
determines the genetic constitution of the new individual.