BIOT-2405 PRINCIPLES OF GENETICS Dr. M.
Altaf
X-linked genes inheritance patterns
The human X chromosome contains many loci that are required in both sexes. Genes
located in the X chromosome, such as those governing color perception and blood clotting, are
sometimes called sex-linked genes. It is more appropriate, however, to refer to them as X-linked
genes because they follow the transmission pattern of the X chromosome and, strictly speaking,
are not linked to the sex of the organism.
A female receives one X from her mother and one X from her father. A male receives his
Y chromosome, which makes him male, from his father. From his mother he inherits a single X
chromosome and therefore all his X-linked genes. In the male, every allele present on the X
chromosome is expressed, whether that allele was dominant or recessive in the female parent. A
male is neither homozygous nor heterozygous for his X-linked alleles; instead, he is always
hemizygous—that is, he has only one copy of each X-linked gene. The significance of
hemizygosity in males is that damaging recessive phenotypes are expressed, making males more
likely to be affected by the many genetic diseases associated with the X chromosome.
We will use a simple system of notation for problems involving X linkage, indicating the
X chromosome and incorporating specific alleles as superscripts. For example, the symbol Xc
signifies a recessive X-linked allele for color blindness and XC the dominant X-linked allele for
normal color vision. The Y chromosome is written without superscripts because it does not carry
the locus of interest. Two recessive X-linked alleles must be present in a female for the abnormal
phenotype to be expressed (XcXc), whereas in the hemizygous male a single recessive allele
(XcY) causes the abnormal phenotype. As a consequence, these abnormal alleles are much more
frequently expressed in male offspring. A heterozygous female may be a carrier, an individual
who possesses one copy of a mutant recessive allele but does not express it in the phenotype
(XCXc).
To be expressed in a female, a recessive X-linked allele must be inherited from both
parents. A color-blind female, for example, must have a color-blind father and a mother who is
homozygous or heterozygous for a recessive color-blindness allele. The homozygous
combination is unusual, because the frequency of alleles for color blindness is relatively low. In
contrast, a color-blind male need only have a mother who is heterozygous for color blindness; his
father can have normal vision. Therefore, X-linked recessive traits are generally much more
BIOT-2405 PRINCIPLES OF GENETICS Dr. M. Altaf
common in males than in females, a fact that may partially explain why human male embryos are
more likely to die.
1. Colour blind Male X Heterozygous Female
XcY XCXc
Xc Y
XC XC Xc XC Y
Normal Female but Carrier Normal Male
Xc Xc Xc Xc Y
Colour Blind Female Colour blind male
Normal Male X Heterozygous Female
XCY XCXc
XC Y
C
X XC XC XCY
Normal Female Normal Male
Xc XC Xc Xc Y
Normal Female but Carrier Colour blind Male
BIOT-2405 PRINCIPLES OF GENETICS Dr. M. Altaf
