CHAPTER 2

NOTES AND TEST

 

Biological Foundations

 

Beginning of Life :  23 pairs of chromosomes

1.  Mechanisms of heredity

a.  Humans have 23 pairs of chromosomes, of which 22 pairs are the     autosomes plus the sex chromosomes

b.  Genotype – is the actual set of genes an individual inherits.

Phenotype – refers to the genes that are expressed.  The result of the    interaction of the genotype and the environment

c.  Alleles – are different forms of the same gene. 

Homozygous – a person who inherits the same allele on a pair of chromosomes. The biochemical instructions on the allele are followed

Heterozygous – a person who inherits different alleles on a pair of chromosomes.  The biochemical instructions of the dominant allele are followed whereas those instructions of the recessive allele are ignored.  A number of behavioral and psychological phenotypes (intelligence, extroversion, introversion) involve differences along an underlying continuum. These phenotypes involve polygenic inheritance, and the phenotype reflects the combined activity of a number of distinct genes.  The influence of heredity and environment is revealed by studying twins and adopted children

 

2.  Genetic Disorders

a.      Genetic disorders – the result of inheriting harmful genes, usually     recessive resulting in diseases such as PKU

b.  Genetic disorders can also result because an extra, a missing or a damaged chromosome.  Most of the fertilized eggs that do not have 46 chromosomes – 44 autosomes and 2 sex chromosomes- are spontaneously aborted soon after conception.  One exception is Down syndrome, in which the individual has and extra 21st chromosome.  Individuals with Down syndrome have a distinctive appearance and are mentally retarded.

c.  Genetic disorders can also result because an extra, a missing or a damaged chromosome.  Most of the fertilized eggs that do not have 46 chromosomes – 44 autosomes and 2 sex chromosomes- are spontaneously aborted soon after conception.  One exception is Down syndrome, in which the individual has and extra 21st chromosome.  Individuals with Down syndrome have a distinctive appearance and are mentally retarded.

d.  More common are disorders of the sex chromosomes, because these chromosomes contain less genetic material.  One of those disorders is Klinefelter’s syndrome, Turner’s syndrome, XYY complement, and XXX syndrome

 

3.  Genes and Environment

a.  PKU  - is an inherited disorder.  Phenylalanine accumulates in the body, and damages the nervous system.  The result is mental retardation, which can be avoided with a diet that is low in phenylalanine.   PKU demonstrates the concept of reaction range, which is the outcome of heredity depends upon the environment in which the development occurs

b.  Heredity can have an influence on the types of experiences children have.  Individuals usually seek environments that fit their genotype, this process is known as niche-picking.

 

4.     From Conception to Birth

a.      Period of the Zygote

This period begins with the fertilization of the egg by the sperm and ends when the zygote is implanted in the wall of the uterus, usually about two weeks after conception.

b.     Period of the Embryo

During this period there is rapid growth, and most of the major body structures are created.  It ends at 8 weeks after conception
c.  Period of the Fetus

This period last until birth.  The fetus becomes much larger and the majority of the systems of the body that are necessary for life begin to function

 

5.     Influences on Prenatal Development

a.      General Risk Factors

Maternal age, maternal nutrition, amount of stress the mother experiences during her pregnancy

b.     Teratogens: Drugs, Disease and Environmental hazards

Exposure to teratogens can cause prenatal development to go wrong.  Major categories of teratogens include drugs (alcohol, cocaine, heroin, etc), diseases (AIDS, rubella) and finally environmental hazards (PCBs and x-rays)

c.     Influence of teratogens in prenatal development

The impact that a teratogens will have greatly depends upon the genotype of the organism, the period of prenatal development when the organism was exposed, and the amount of exposure.  Teratogens usually affect a specific aspect of prenatal development and sometimes the impact they have is not evident until later in life

 

6.     Prenatal Diagnosis and Treatment

Medical procedures that help  determine if prenatal development is progressing normally include utltrasound, amniocentisis and chorionic villus sampling

 

7.     Labor and Delivery

a.      Stages of Labor

Labor consists of three stages: the initial phase in which the cervix enlarges, the baby’s birth, and the delivery of the placenta

b.     Approaches to Childbirth

A number of women prefer natural childbirth; one of the aims of this approach is to reduce labor pain by relaxing (Lamaze method).  Today in the U.S. the majority of the babies are born in hospitals, however some couples choose to give birth at home or in a birth center

c.     Birth Complications

One birth complication is that some newborns experience lack of oxygen because the umbilical cord is pinched closed during delivery or because their lungs do not work.

Another one happens when babies are born prematurely or with low birth weight.  Those babies usually lag behind the babies that were born full-term during the first year, but soon catch up.

Newborns with low birth weight can develop normally if they have excellent medical care and a supportive environment, but babies with very low or extremely low birth weight usually do not fare well

 

8.     Infant Mortality

The infant mortality in the United States is quite high, with 9 infants out of 1000 living less than one year.  This high rate is the result of the high incidence of low birth weight babies.