Sex Chromosomes in Humans

The chromosome number in Man is 46 i.e. 23 pairs. Out of 23 pairs, 22 pairs are common in both males and females. These are called Autosomes. 23rd pair of chromosomes is a small pair and it determine the sex in the man. In male, 22 pairs are Autosomes and 23rd pair are sex chromosomes that are denoted by X & Y (22pairs of A + XY). Similarly in females, 22 pairs are Autosomes and 23rd pair are sex chromosomes but they are identical i.e. there are 2 X chromosomes (22 pairs of A + XX).

Sex Chromosomes in Humans

The X and Y chromosomes are different in shape and size. Y chromosome is J shaped and is smaller than X chromosome but they pair up during meiosis. From the given information it is clear that maleness is due to presence of one X and one Y chromosome and femaleness is presence of two X chromosomes.

Determination of Sex
During meiosis, the sex chromosomes are also reduced to half like Autosomes forming a haploid gamete. In female, ova will have one X chromosome + 22 Autosomes making the haploid chromosome number 23. But in male, sperms half will have one X chromosome + 22 Autosomes and the other half will have one Y chromosome + 22 Autosomes.

 In humans and many other species males produce two types of gametes i.e. X and Y, hence they are Heterogametic. Females produce only one type of gametes i.e. X, hence they are Homogametic.

Sex determination in Human

Sex Determination in Human

Sex Linkage
Sex chromosomes (X & Y) carry sex determining genes i.e. male & female. But they also carry certain other genes that control some important traits. Such characters / traits that are controlled by genes occurring on sex chromosomes are called sex-linked characters. The genes controlling these characters are referred to as sex-linked genes and the inheritance of these genes is called sex-linkage or more commonly sexlinked inheritance.

SEX-Linked inheritance of Diseases

Certain genes which occur on the X chromosome are more likely to affect a male than a female. This is clearly evident in the case of a certain form of colour blindness and haemophilia, two important sex-linked inherited diseases of human.

 It is a sex-linked inherited human disease. People suffering from this disease are not able to distinguish between the colour red and green. The gene for red-green colour blindness is carried on the X-chromosome. Normal vision is dominant over red-green colour blindness. the condition was often called daltonism, although this term is now used for a type of colour blindness called deuteranopia.

Haemophilia
Haemophilia is an another X-linked inherited disease. The people suffering from haemophilia are unable to synthesize a normal blood protein called AntiHaemophilic Globulin (AHG) that helps in clotting. As a result, haemophiliacs can bleed for a long time even from a very small cut. That is why haemophilia is also called Bleeders disease. The gene causing Haemophilia is also a recessive gene located on the X chromosome similar to that of redgreen color blindness.

Haemophilia chart

Haemophilia chart

Other X-linked Factors

It include Brown Enamel on teeth. Sexual characters like beard and muscular physique in men, mammary glands, wider pelvis in women are not due to sex-linked genes. Rather they are different expressions of the same genes. It is due to the presence of the X or Y chromosome that creates an environment of maleness or femaleness causing to the sex chromosomes present in an individual.

 A very few abnormalities are thought to be linked to the Y chromosome but now even they are open to more research. It should be remembered that the X-chromosome of a man always comes from his mother while a girl inherits one X-chromosome each from her mother and father. Thus, a man can never transfer a sex-linked gene directly to his son because the son inherits only the Y-chromosome from his father.

 Father of Genetics: Gregor Mendel Mendels law: 1). Law of Dominance 2). Law of segregation 3). Law of independent assortment. According to Mendel each characters has two alleles: Dominant and Recessive Law of Segregation: it states that when a pair of contrasting alleles come together in an organism they remain pure and separate again in the gametes. Law of independent assortment: it states that when the parents differ in two or more alleles then inheritance of a pair of allele is independent of others.

 There are exceptions to Mendels law e.g. Incomplete Dominance, linkage, Multiple Allelism and Gene Interactions. Mendels law are important because genotypes and phenotypes of next generation can be predicted even before cross is made. Chromosomes common to male and female individuals are called Autosomes. Chromosomes that determine the sex of a diploid individual are called sex chromosomes.

 In humans, there are 46 chromosomes (23 pairs of chromosomes: 22 pairs are Autosomes and 23rd pair is Sex chromosome, XY in male and XX in female.) Characters controlled by genes on sex chromosomes are called sex-linked characters. Two important sex-linked inherited human diseases are haemophilia and colour blindness. They are both due to a recessive gene present on X-chromosome. X-chromosome linked recessive diseases are less common in female because of their heterozygosity.