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Q11:
How is sex determined in human beings?

Solution :

Genetic Basis of Sex Determination in Humans

In humans, sex determination is governed by a chromosomal mechanism classified as the $XX-XY$ type. This system is primarily driven by the presence or absence of the $Y$ chromosome, which carries the male-determining genetic information.

Step 1: Chromosomal Constitution

A diploid human somatic cell contains $46$ chromosomes, organized into $23$ pairs. These are categorized into:

  • Autosomes: $22$ pairs ($44$ chromosomes) that carry genes for somatic characteristics.
  • Sex Chromosomes (Allosomes): $1$ pair ($2$ chromosomes) responsible for sexual dimorphism.

The chromosomal makeup is defined as:

  • Females: $44 + XX$ (Homogametic; produce only one type of gamete: $22 + X$).
  • Males: $44 + XY$ (Heterogametic; produce two types of gametes: $22 + X$ and $22 + Y$).

Step 2: The Mechanism of Gametogenesis

During meiosis, the homologous chromosome pairs segregate [Per Mendel’s Law of Segregation].

Parent Diploid Constitution Gametes Produced
Female $44 + XX$ $22 + X$ (100%)
Male $44 + XY$ $22 + X$ (50%) and $22 + Y$ (50%)

Step 3: Fertilization and Sex Ratio Probability

Sex determination is strictly determined by the male gamete (sperm) that fertilizes the ovum. Since the ovum always contributes an $X$ chromosome, the gender of the offspring depends on whether the sperm cell carries an $X$ or $Y$ chromosome.

Parental Generation (P): Male (44+XY) x Female (44+XX) Gametes: (22+X), (22+Y) | (22+X) S/O 22+X 22+X 44+XX (Female) 22+Y 44+XY (Male)

Step 4: The Role of the SRY Gene

The determination of the male phenotype is specifically regulated by the SRY (Sex-determining Region Y) gene located on the short arm of the $Y$ chromosome [Per Molecular Genetics]. This gene triggers the differentiation of the undifferentiated gonads into testes, which subsequently secrete testosterone and Anti-Mullerian Hormone (AMH) to masculinize the fetus. In the absence of the $Y$ chromosome and the $SRY$ gene, the fetus develops into a female phenotype.

Final Solution: Sex in humans is determined by the chromosomal constitution of the sperm at the moment of fertilization. An $X$-bearing sperm fertilizing an $X$-bearing ovum results in a female ($44 + XX$), while a $Y$-bearing sperm fertilizing an $X$-bearing ovum results in a male ($44 + XY$). Statistically, there is a $50\%$ probability for each sex per fertilization event.


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