A main feature of inheritance is predictability:
given certain conditions, the likelihood of the occurrence or recurrence of a specific
trait is remarkably predictable. The units of inheritance are the genes, and the
pattern of single-gene expression can often be predicted using Mendel’s laws of
genetic transmission. Techniques and discoveries since Gregor Mendel’s original
work was published in 1865 have led to some modification of the original laws.
Mendel discovered the basic pattern
of inheritance by conducting carefully planned experiments with simple garden peas.
Experimenting with several phenotypic traits in peas, Mendel proposed that inherited
traits are transmitted from parents to offspring by means of independently inherited
factors now known as genes and that these factors are transmitted as recessive and
dominant traits. Mendel labeled dominant factors (his round peas) “A” and recessive
factors (his wrinkled peas) “a.” Geneticists continue to use capital letters to
designate dominant traits and lowercase letters to identify recessive traits. The
possible combinations that can occur with transmission of single-gene dominant and
recessive traits can be described by constructing a figure called a Punnett square
using capital and lowercase letters (Fig. 6.11).
The observable traits of single-gene
inheritance are inherited by the offspring from the parents. During maturation,
the primordial germ cells (i.e., sperm and ovum) of both parents undergo
meiosis, or reduction division, in which the number of chromosomes is divided in
half (from 46 to 23). At this time, the two alleles from a gene locus separate so
that each germ cell receives only one allele from each pair (i.e., Mendel’s
first law). According to Mendel’s second law, the alleles from the different gene
loci segregate independently and recombine randomly in the zygote. People in whom
the two alleles of a given pair are the same (AA or aa) are called homozygotes.
Heterozygotes have different alleles (Aa) at a gene locus. A recessive trait
is one expressed only in a homozygous pairing; a dominant trait is one
expressed in either a homozygous or a heterozygous pairing. All people with a
dominant allele (depending on the penetrance of the genes) manifest that trait.
A carrier is a person who is heterozygous for a recessive trait and does not manifest the trait. For example, the genes
for blond hair are recessive and those for brown hair are dominant. Therefore, only
people with a genotype having two alleles for blond hair would be blond; people
with either one or two brown
alleles would have brown hair.
