Genetic Basics! Understanding the Clues We Carry in Our Genes! ! By Kimberly Powell! ! Its in your genes.

Thats how scientists explain the physical characteristics, personality traits, and behaviors which make each human unique. The clues carried in our genes -- in the form of DNA --are now used to determine criminal guilt or innocence, resolve paternity or maternity questions, predict the chance of inheriting a disease or medical condition, and even trace the long-distant ancestors of the human family tree.! Your body is made up of tiny units called cells as many as 100 trillion of them, according to some estimates. Within the nucleus of every one of these cells is a set of instructions which tell the cell what role it will play in your body. These instructions, essentially a blueprint or recipe for building di"erent parts of the cell, come in the form of a molecule called DNA. Short for deoxyribonucleic acid, DNA consists of two thread-like strands that are linked together in the shape of a double helix.! ! What is DNA?! ! DNA is made up of four chemical bases: Adenine (A), Cytosine (C), Thymine (T), and Guanine (G). These bases are combined into pairs adenine with thymine and cytosine with guanine to make up the rungs of the DNA ladder (see Figure 21.1). Each rung, more accurately called a base pair, is one of three billion such pairs which work together to provide the instructions for building and maintaining a human being the human genome. The exact order in which these base pairs are combined is called the DNA sequence. Much in the way letters of the alphabet are combined to form words and sentences, the sequence of these bases are the letters which spell out the genetic code.! What is a Chromosome?! ! Within the nucleus of each cell, the DNA molecules are coiled around proteins into tiny structures called chromosomes. In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. One chromosome in each pair is inherited from the mother, and the other from the father. Twentytwo of these pairs, sometimes called autosomes, look the same in both males and females. The 23rd pair, called the sex chromosome because it determines gender, is the one which di"erentiates males and females. Females have two copies of the X chromosome, one from each parent, while males have one X chromosome from their mother, and one Y chromosome from their father. It is the father who determines the sex of his child.! What is a Gene?! ! Genes are sections or segments of DNA that form the individual units of heredity. They are carried on the chromosomes and contain instructions for making molecules called proteins. Each protein enables a cell to perform its own special function. The hemoglobin in red blood cells, for example, is responsible for transporting oxygen throughout your body. Another protein, insulin, helps you metabolize your food. The keratin protein is what helps your hair and nails to grow. If you look at DNA as a recipe for creating a living thing, then genes and proteins are the ingredients which work together to build, repair, and run your body.! The traits which make us each unique are also inherited from our ancestors. Physical characteristics such as curly hair, blue eyes, and a tendency for acne are all determined by our genes. Scientists also believe that many emotional and behavioral traits, at least in part, are inuenced by an individuals genetic makeup. Eating habits, intelligence, a penchant for aggressiveness, and even sleeping patterns all have their roots in our DNA.! ! Because genes are carried on the chromosomes, humans have two copies of each gene, one inherited from the mother and one from the father. The two copies arent necessarily the same,

however. Just like snowakes, genes come in variant forms. These variations are known as alleles. Di"erent alleles are what produce variations in inherited traits. This is why your individual traits such as hair color or blood type may not match those traits in either of your parents.! ! ! Mutations! ! As DNA passes from one generation to the next, it acquires small changes, known as mutations. The most common is a change to a single base, for example a change from a T to a C. Other possible changes include the loss or addition of one or more bases. The e"ect of a mutation depends upon the type of changes and their location in the sequence. Just like one single letter can change a word or even a sentence, a mutation can change the instructions in a gene. Most mutations are considered to be neutral, having little to no impact. Serious mutations can actually cause a protein to stop functioning properly.! Mutations in the DNA can be inherited or acquired. When a mutation is inherited from a parent it is present in almost all of the bodys cells. Acquired mutations are changes in the DNA that develop throughout a persons life. They arise in the DNA of individual cells, either spontaneously, or in response to environmental factors such as radiation or viruses. Spontaneous mutations are the most common, caused by copying mistakes in the DNA code as cells form and divide. Most of the time the cell recognizes the mistake and repairs it, but sometimes it passes the mutation on as it divides and creates new cells.! ! DNA doesnt have long-term memory, so any mutations which develop in a gene are reproduced and passed down to future generations. By comparing the mutations of two individuals, it is possible to calculate how closely theyre related. By calculating the mutation rate, researchers can deduce how far back in time di"erent groups split apart.! ! Markers! ! A marker is a segment of DNA with known genetic characteristics. These markers, which can be found at specic locations, or loci, on the chromosome, are essentially places where the same pattern repeats a number of times sort of a "stutter" in the DNA. The number of repeats in a marker is known as an allele, basically a variant form of a specic gene. Since the number of repeats within these sequences is inherited, they make useful mileposts for genetic testing.! A special type of marker known as a Short Tandem Repeat (STR) is the one most often used for hereditary and forensic testing. STRs are short sequences of DNA (usually 2-5 base pairs) that are repeated as many as 100 times along the DNA strand. For example, the four-base pattern CAGT might be repeated four times: CAGTCAGTCAGTCAGT. STRs are chosen for their tendencies to display variations, caused by mutations, among di"erent people, allowing scientists to di"erentiate between individuals.! ! To determine a connection between two individuals, specic markers on the DNA strand are analyzed for the number of repetitions at each marker. Because mutations happen randomly, however, a mutation which appears at a specic marker may have begun with the current generation, or it may have been handed down through ve generations. This is why a number of di"erent markers are tested and compared. The number of markers examined varies from test to test and company to company, but most ancestry DNA tests are typically in the 12-40 marker range. The DNA test results provide you with the number of repetitions at each of the specic markers tested. The more locations that match, the more likely it is that the two individuals are related.! ! http://genealogy.about.com/od/dna_genetics/a/genetic_basics.htm !