GENETICS:
CHAPTER
3
If there were potential
genetic problems that
might show up with genetic
counseling, would you want
to have such counseling
and why/why not? Does
your decision depend on
whether there are certain
treatments available?
Would it make you better
prepared once the child is
born?
MECHANISMS OF GENETIC
TRANSMISSION
The human
body
There is a
nucleus inside
Each nucleus
contains 46
One
chromosome
The
chromosomes
Genes are
segments
contains each human chromosomes, of every pair is are filled with of DNA that contain
100 trillion cell (except red arranged in from each tightly coiled instructions to make
cells. blood cells). 23 pairs. parent. strands of proteins—the
DNA. building blocks
of life.
Genes: molecular structures, carried on chromosomes, containing genetic
information; the basic unit of heredity
Key principles
◦ Role of DNA
◦ Meiosis and mitosis
INDIVIDUAL GENETIC EXPRESSION
How does the genetic information contained in our cells influence the
development of our unique physical, intellectual, social, and emotional
characteristics?
GENOTYPE AND PHENOTYPE
►
Genotype: set of genetic traits a person inherits;
a person’s inborn capacity or potential
►
Phenotype: set of traits a person actually displays, resulting from a
combination of the
person’s genotype (potential) and life experiences
that modify that potential
DOMINANT AND RECESSIVE GENES
Dominant gene: in any paired set of genes, the gene
with greater influence in determining
characteristics that are physically visible or
manifest
Recessive gene: In any paired set of genes, the gene
that influences or determines physical characteristics
only when no dominant gene is present
TRANSMISSION OF MULTIPLE VARIATIONS
The genes responsible for eye color—and, in fact, for
many other traits—often take on two or more
alternative forms called alleles
A person who inherits two identical alleles for a
particular trait is said to be homozygous for that trait
A person who inherits two different alleles for the trait
is said to be heterozygous for that trait
TRANSMISSION OF
VARIATIONS
POLYGENIC TRANSMISSION
Polygenic traits involve many genes, each with small
effects, as well as environmental influences
◦ Examples: an overweight person can become more slender
through a change in diet; a shy person can learn to be more
outgoing
THE DETERMINATION
OF SEX All ova contain a single X chromosome
A sperm cell may contain either an X or
aY
If a Y-bearing sperm fertilizes the
egg, a male (XY) zygote develops
If an X-bearing sperm fertilizes the egg,
a female (XX) zygote develops
Sex-linked recessive traits: recessive traits
resulting from genes on the X chromosome
Genomic imprinting: inheritance mode in which
genes are chemically marked so that the number
of the chromosome pair contributed by either the
father or the mother is activated, regardless of its
genetic makeup
THE DETERMINATION
OF SEX (CONT.)
GENETIC ABNORMALITIES
Disorders due to abnormal chromosomes
◦ Down syndrome, Klinefelter syndrome, fragile X syndrome,
Turner syndrome
Disorders due to abnormal genes
◦ Dominant gene disorders
Polydactyly, achondroplasia, Huntington disease
◦ Recessive gene disorders
Cystic fibrosis, sickle-cell disease, Tay-Sachs disease
◦ Multifactorial disorders
Congenital heart disease, neural tube defect, cleft lip/palate
TURNER
SYNDROME
GENETIC COUNSELING AND PRENATAL
DIAGNOSIS
Couples likely to benefit from counseling
◦ Those who may carry genetic disorders, know of relatives
with genetic disorders, or belong to an ethnic group at risk for
a particular disorder
Methods
◦ Prenatal: after pregnancy has been established
◦ Preimplantation: screening of ova and early embryos before
in vitro implantation
Concerns
◦ Eugenics: engineering “better babies,” based on beliefs about
which human qualities are desirable and which are not
WHO SHOULD SEEK PRENATAL
COUNSELING?
1. Couples who already have a child with some serious problem such as Down
syndrome, spina bifida, congenital heart disease, limb malformation, or intellectual
disability
2. Couples with a family history of a genetic disease or intellectual disability
3. Couples who are blood relatives (first or second cousins)
4. African Americans, Ashkenazi Jews, Italians, Greeks, and other high-risk ethnic
groups
5. Women who have had a serious infection early in pregnancy (rubella or
toxoplasmosis) or who have been infected with HIV
6. Women who have taken potentially harmful medications early in
pregnancy or
habitually use drugs or alcohol
7. Women who have had x-rays taken early in pregnancy
8. Women who have experienced two or more of the following: stillbirth, death of a
newborn baby, miscarriage
9. Any woman thirty-five years or older
Source: Adapted from Fienbloom & Forman (1987, p. 129) and Simpson et al. (2012)
RELATIVE INFLUENCE OF HEREDITY AND
ENVIRONMENT
Behavior genetics: the scientific study of how genetic
inheritance (genotype) and environmental
experience jointly influence physical and behavioral
development (phenotype)
WHAT DO YOU THINK?
ead page 78 and in groups discuss the questions aske
TRY IT!
IN GROUPS, RESEARCH 2
PROGRAMS:
Are there programs whose goal is to help children
reach the top of their reaction range (theory that
proposes a person’s attitudes and responses rely
on environmental and genetic factors) that are in
your community or nationally?
What do they do?
How are they funded?
Do they work?