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The Human Genome Chapter 14 Section 1 karyotype (KAR-ee-uh-typ). • photograph cells in mitosis, when the chromosomes are fully condensed and easy to see. • The biologists then cut out the chromosomes from the photographs • Then group them together in pairs. • Two of 46 chromosomes in humans are known as sex chromosomes, because they determine an individual's sex. • To distinguish them from the sex chromosomes, the remaining 44 chromosomes are known as autosomal chromosomes, or autosomes From Gene to Molecule • In both cystic fibrosis and sickle cell disease, a small change in the DNA of a single gene affects the structure of a protein, causing a serious genetic disorder. (test question) In a population, approximately half of the zygotes are XX (female) and half are XY (male). X and Y chromosomes • Females have two X chromosomes, but males have only one. If just one X chromosome is enough for cells in males, how does the cell “adjust” to the extra X chromosome in female cells? • In female cells, one X chromosome is randomly switched off. That turned-off chromosome forms a dense region in the nucleus known as a Barr body. pedigree chart pedigree chart example Fun Fact about Cats • a gene that controls the color of coat spots is located on the X chromosome. One X chromosome may have an allele for orange spots and the other may have an allele for black spots. In cells in some parts of the body, one X chromosome is switched off. In other parts of the body, the other X chromosome is switched off. As a result, the cat's fur will have a mixture of orange and black spots. Male cats, which have just one X chromosome, can have spots of only one color. Calicos are female Human Chromosomes • A human diploid cell contains more than 6 billion base pairs of DNA. All of this DNA is neatly packed into the 46 chromosomes present in every diploid human cell. • only about 2 percent of the DNA in your chromosomes functions as genes—that is, is transcribed into RNA • Genes are scattered among long segments of DNA that do not code for RNA. Sex-Linked Genes • Males have just one X chromosome. Thus, all X-linked alleles are expressed in males, even if they are recessive. • color blind • Colorblindness • Hemophilia • Duchenne Muscular Dystrophy assignment • Page 348 1-2 • Page 354 1-3