Human cells are diploid, which means they carry
two copies of each chromosome. Thus, they carry two copies of
each gene, one on each of the paired chromosomes. For a gene such
as the adult
hemoglobin gene, which can exist in two
forms-the "normal" type,
, and a variant
(mutant) type,
*, an individual can have three
possible combinations of these genes in the paired chromosomes:
A.
+
: homozygous (same genes) in the normal type
B.
+
*: heterozygous (mixed genes)
C.
* +
*: homozygous in the variant type
Individual A will produce only normal
hemoglobin chains. Individual C, will produce only
variant hemoglobin chains. Individual B, with genes for both types,
will produce both. If the mutation is deleterious, A will be unaffected,
but C will be in serious trouble. B, on the other hand, may do
fairly well, because he or she will make normal protein chains
along with the variant ones.
When two individuals produce offspring, each
parent donates to a child one copy of the
hemoglobin
gene, the selection of which will be random. If both parents are
heterozygous for the gene (Figure 7.26),
the child has one chance in four of being homozygous normal, one
in four of being homozygous for the variant gene, and two in four
of being heterozygous. Because most variant hemoglobin genes are
rare in the human population, only occasionally do we find an
individual homozygous for the variant type.