A Perspective on Human Genetics

Chapter 1

DNA (Deoxyribonucleic Acid)

!  Helical molecule: Two stands of nucleotides •  Primary carrier of

genetic information •  4 Letters in the

genetic alphabet: A, C, G and T

From DNA to Protein

!  A gene is transcribed into RNA and then translated into protein

!  A protein has a three dimensional shape

Gregor Mendel

!  He discovered many properties of genes and founded genetics

Chromosomes

!  Genes are parts of chromosomes •  Meiosis separates chromosomes during formation

of egg and sperm

How Do We Study Genes?

!  Cytogenetics - Karyotyping !  Molecular Genetics - Recombinant DNA, RFLP

Analysis, Gene Therapy

!  Transmission Genetics - Pedigree analysis, Family Traits

!  Population genetics - Databases, Genetic Distribution

Cytogenetics - Karyotype

!  Chromosomes arranged by size, shape, and other characteristics

Molecular Genetics

Analyzing DNA to identify the cause of disorders and cancer

Changing genes, Altering Phenotypes for Food, Medicine,Health

Transmission Genetics: Pedigree Analysis

!  Follows the passing of Traits within a family

Has Genetics Affected Social Policy and Law?

!  Eugenics was an influential force in American life from 1905 through 1933 •  Restricted immigration to “superior” peoples

Population Genetics

!  DNA microarrays (DNA chips) •  Carry the entire human

genome •  Screen an individual’s

entire genome

Collecting Genetic Data about people to examine the passage and distribution of a particular gene in a population to link that gene with a genetic condition

What Impact is Genetics Having Now? !  Biotechnology

•  Commercial uses for genes

!  Human Genome Project •  Mapping all human genes

!  Health Care •  Gene Therapy, Karyotyping

!  Genetic Testing •  DNA Microarrays

!  Social Policy and Law •  Immigration and Reproductive Laws