Understanding the Basics of Genetic Disorders

You’ve heard terms like genes, DNA and chromosomes. But what do these words mean exactly?

What is DNA?

DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).

The information in DNA is stored as a code which is made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymine (T). Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people. The order, or sequence, of these bases determines the information available for building and maintaining an organism, similar to the way in which letters of the alphabet appear in a certain order to form words and sentences.

DNA bases pair up with each other, A with T and C with G, to form units called base pairs. Each base is also attached to a sugar molecule and a phosphate molecule. Together, a base, sugar, and phosphate are called a nucleotide. Nucleotides are arranged in two long strands that form a spiral called a double helix. The structure of the double helix is somewhat like a ladder, with the base pairs forming the ladder’s rungs and the sugar and phosphate molecules forming the vertical sidepieces of the ladder.

An important property of DNA is that it can replicate, or make copies of itself. Each strand of DNA in the double helix can serve as a pattern for duplicating the sequence of bases. This is critical when cells divide because each new cell needs to have an exact copy of the DNA present in the old cell.

What is a chromosome?

In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure.

Chromosomes are not visible in the cell’s nucleus – not even under a microscope—when the cell is not dividing. However, the DNA that makes up chromosomes becomes more tightly packed during cell division and is then visible under a microscope. Most of what researchers know about chromosomes was learned by observing chromosomes during cell division.

Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or “arms.” The location of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes.

What is a gene?

A gene is a distinct portion of a cell’s DNA. Genes are coded instructions for making everything the body needs, especially proteins. Human beings have approximately about 25,000 genes. Researchers have discovered what some of our genes do, and have found some that are associated with disorders (such as cystic fibrosis or Huntington’s disease). There are many genes whose functions are still unknown.

The combination of all genes makes up the blueprint for the human body and its functions.

A person's genetic makeup is called a genotype. Genotype and phenotype are very similar-sounding words that are related, but actually mean different things. Whereas genotype is the set of genes responsible for a particular trait, phenotype is the physical expression of that trait. For example, two organisms that have even the minutest difference in their genes have different genotypes, whereas two mice of different genotypes might both be white, and share that particular phenotype.

In females, one sex chromosome gets its gene from the mother, the other matching sex chromosome has the gene from the father.

In males, a single X chromosome comes from the mother and a non-matching Y chromosome comes from the father.

Genetic traits, such as eye color, are described as dominant or recessive:

· Dominant traits are controlled by one gene in the pair.

· Recessive traits require both genes in the gene pair to work together to control the trait.

Many personal characteristics, such as height, are determined by more than one gene. However, some diseases, such as sickle cell anemia, can be caused by a change in a single gene.

IV. Answer the following questions to check how carefully you have read the text:

1. What is the hereditary material in humans and almost all other organisms?

2. Where is most DNA located?

3. How is the information in DNA stored?

4. How many bases does human DNA consist of?

5. What determines the information for building and maintaining an organism?

6. In what way do DNA bases pair up with each other?

7. What is a nucleotide?

8. What is an important property of DNA? Why?

9. What is each chromosome made up of?

10. Are chromosomes visible?

11. What is a centromere?

12. What can be used to help describe the location of specific genes?

13. What is a gene?

14. How many genes do human beings have?

15. Are genes associated with disorders in a human body?

16. What is a genotype?

17. What is a phenotype?

18. What is a combination of sex chromosomes in females? In males?

19. What are dominant traits?

20. What are recessive traits?

Дата добавления: 2015-10-26