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Wild-type fruit y, Drosophila melanogaster.
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phenotype that is referred to as the wild-type. For fruit ies (Drosophila), organisms commonly used in genetic studies, the wild-type has red eyes and round wings ( g. 2.11). Alternatives to the wild-type are referred to as mutants ( g. 2.12). Thus, red eyes are wild-type, and white eyes are mutant. Fruit y genes are named after the mutant, beginning with a capital letter if the mutation is dominant and a lowercase letter if it is recessive. Table 2.1 gives some examples.The wild-type allele often carries the symbol of the mutant with a added as a
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superscript; by de nition, every mutant has a wild-type allele as an alternative. For example, w stands for the white-eye allele, a recessive mutation. The wild-type (red eyes) is thus assigned the symbol w . Hairless is a dominant allele with the symbol H. Its wild-type allele is denoted as H . Sometimes geneticists use the symbol alone for the wild-type, but only when there will be no confusion about its use. If we are discussing eye color only, then is clearly the same as w : both mean red eyes. However, if we are discussing both eye color and bristle morphology, the alone could refer to either of the two aspects of the phenotype and should be avoided.
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Wing mutants of Drosophila melanogaster and their allelic designations: Cy, curly; sd, scalloped; ap, apterous; vg, vestigial; dp, dumpy; D, Dichaete; c, curved.
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Multiple Alleles
Table 2.2 ABO Blood Types with Immunity Reactions
Blood Type Corresponding to Antigens on Red Blood Cells O A B AB Reaction of Red Cells to Anti-A Antibodies Reaction of Red Cells to Anti-B Antibodies
Antibodies in Serum Anti-A and anti-B Anti-B Anti-A None
Genotype ii IAIA or IAi IBIB or IBi IAIB
MULTIPLE ALLELES
A given gene can have more than two alleles. Although any particular individual can have only two, many alleles of a given gene may exist in a population. The classic example of multiple human alleles is in the ABO blood group, which Karl Landsteiner discovered in 1900.This is the best known of all the red-cell antigen systems primarily because of its importance in blood transfusions. There are four blood-type phenotypes produced by three alleles (table 2.2).The I A and I B alleles are responsible for the production of the A and B antigens found on the surface of the erythrocytes (red blood cells). Antigens are substances, normally foreign to the body, that induce the immune system to produce antibodies (proteins that bind to the antigens).The ABO system is unusual because antibodies can be present (e.g., anti-B antibodies can exist in a type A person) without prior exposure to the antigen. Thus, people with a particular ABO antigen on their red cells will have in their serum the antibody against the
other antigen: type A persons have A antigen on their red cells and anti-B antibody in their serum; type B persons have B antigen on their red cells and anti-A antibody in their serum; type O persons do not have either antigen but have both antibodies in their serum; and type AB persons have both A and B antigens and form neither anti-A or anti-B antibodies in their serum. The I A and I B alleles, coding for glycosyl transferase enzymes, each cause a different modi cation to the terminal sugars of a mucopolysaccharide (H structure) found on the surface of red blood cells ( g. 2.13). They are codominant because both modi cations (antigens) are present in a heterozygote. In fact, whichever enzyme (product of the I A or I B allele) reaches the H structure rst will modify it. Once modi ed, the H structure will not respond to the other enzyme. Therefore, both A and B antigens will be produced in the heterozygote in roughly equal proportions. The i allele causes no change to the H structure: because of a mutation it produces a nonfunctioning enzyme. The i allele and its phenotype are recessive; the presence of the I A or I B allele, or both,
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