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CONTENTS
1 Background and History, 1
2 Basic Cell Biology: Structure and Function of Genes
and Chromosomes, 6
3 Genetic Variation: Its Origin and Detection, 28
4 Autosomal Dominant and Recessive Inheritance, 60
5 Sex-Linked and Nontraditional Modes of
Inheritance, 79
6 Clinical Cytogenetics: The Chromosomal Basis of
Human Disease, 103
7 Biochemical Genetics: Disorders of Metabolism, 132
8 Disease-Gene Identification, 154
9 Immunogenetics, 180
10 Genetic Basis of Development, 197
11 Cancer Genetics, 217
12 Multifactorial Inheritance and Common Diseases, 239
13 Genetic Testing and Gene Therapy, 265
14 Genetics and Precision Medicine, 292
15 Clinical Genetics and Genetic Counseling, 301
Glossary, 321
Answers to Study Questions, 332
Index, 342

Those with type O have neither the A nor the B antigen.

Persons who have one of these antigens on their erythrocyte
surfaces possess antibodies against all other ABO antigens in
their blood stream. (These antibodies are formed early in life
as a result of exposure to antigens that are identical to the A
and B antigens but are present in various microorganisms.)
Thus, if a type B person received type A or AB blood, his or
her anti-A antibodies would produce a severe and possibly
fatal reaction. Type O persons, who have neither the A nor
the B antigen and thus both anti-A and anti-B antibodies,
would react strongly to blood of the other three types (A, B,
and AB). It was once thought that type O persons, because
they lack both types of antigens, could be “universal donors”
(anyone could accept their blood). Similarly, type AB persons
were termed “universal recipients” because they lacked both
anti-A and anti-B antibodies. However, when patients are
given transfusions of whole blood containing large volumes
of serum, the donor’s antibodies can react against the recipient’s
erythrocyte antigens. Hence, complete ABO matching is
nearly always done for blood transfusions.