Showing posts with label Human Genetics. Show all posts
Showing posts with label Human Genetics. Show all posts

Dec 27, 2015

Understanding Sex-Linked Inheritance in Humans

In human genetics, certain traits are passed down through the sex chromosomes, which are the X and Y chromosomes. These are referred to as sex-linked traits and can be either X-linked or Y-linked, depending on which chromosome carries the gene.


X-Linked Inheritance: When Genes Ride on the X Chromosome

The X chromosome carries a variety of traits that can be either recessive or dominant in nature.

X-Linked Recessive Traits

Recessive X-linked disorders typically appear more often in males than females. This is because males have only one X chromosome, so a single defective gene on it will express the trait. In contrast, females need two defective copies to show the condition.

Common examples include:

  • Hemophilia
  • Red-green color blindness

How These Traits Are Tracked: The Pedigree Chart

A pedigree is a diagram that shows how a trait is inherited across generations:

  • Squares represent males, circles represent females.
  • Filled shapes indicate affected individuals.
  • Half-filled shapes identify carriers—individuals who carry the gene but do not show the condition.

Pedigree

Hemophilia: A Historical and Genetic Insight

Hemophilia is a rare but serious X-linked disorder where blood fails to clot properly. Affected individuals bleed excessively even from minor injuries due to a missing or faulty clotting factor.

Types of Hemophilia:

  • Hemophilia A & B: X-linked recessive; affect mainly males.
  • Hemophilia C: Autosomal recessive; affects both sexes equally.

Inheritance Pattern:

Hemophilia A and B are passed from maternal grandfathers to grandsons through carrier daughters, never directly from father to son.


A simplified pedigree showing the X-linked inheritance of haemophilia in European royal family

Color Blindness: When the Eyes Miss a Shade

Color blindness results from mutations in the genes responsible for color-detecting proteins, called opsins, found in the eye’s cone cells.

Types of Color Blindness:

  • Protanopia: Red color blindness
  • Deuteranopia: Green color blindness
  • Tritanopia: Blue color blindness (not X-linked)
  • Protanomaly & Deuteranomaly: Partial deficiencies in red and green perception
  • Monochromacy: Total color blindness; only one type of cone functions

Red-green color blindness is X-linked and more common in men because they have only one X chromosome. Women must inherit two defective genes to be color blind.


X-Linked Dominant Inheritance: Traits That Show Up Even with One Gene

In this case, a single copy of the faulty gene on the X chromosome is enough to express the trait in both sexes.

Example:

  • Brown teeth — An X-linked dominant trait that can affect males and females. If the gene is homozygous, all offspring are affected; if heterozygous, only half may show the trait.


Hairy Pinnae

Y-Linked Inheritance: Passed Only From Father to Son

Y-linked traits are carried on the Y chromosome, so only males can inherit and express them.

Example:

  • Hair growth on ears — A trait exclusively passed from father to son.
  • The SRY gene, found on the Y chromosome, is responsible for male development.

Sex-Limited Traits: Traits That Appear in One Sex Only

These traits may be governed by sex-linked or autosomal genes but appear only in one sex due to hormonal influence.

Examples:

  • Milk production in females
  • Beard growth in males

Although a woman doesn’t grow a beard, she can still carry and pass on the gene to her sons.


Sex-Influenced Traits: Genes That Behave Differently in Males and Females

These traits are not on the sex chromosomes but behave differently in males and females due to hormonal influence.

Example:

  • Pattern baldness
    • Dominant in men: A heterozygous male becomes bald.
    • Recessive in women: A female must be homozygous to show baldness.
    • In rare cases, a heterozygous woman with a hormonal imbalance (like an adrenal tumor) may temporarily develop baldness.

Key Insights to Remember

  • Males are more prone to X-linked recessive disorders because they lack a second X chromosome to mask faulty genes.
  • Traits on the Y chromosome pass only from father to son and are never seen in females.
  • Sex-limited and sex-influenced traits are shaped by hormones and may behave differently in men and women—even if the gene is the same.
  • Pedigree analysis is a vital tool in identifying how these traits are passed down through generations.
  • Some traits like color blindness and hemophilia have significant historical and medical relevance and continue to be key areas of genetic research.

Nov 25, 2012

Decoding Diversity: Comparative Genetics Revealed

"Comparative genetics" is a field of study that involves comparing the genetic makeup of different species to better understand their similarities and differences. It is a multidisciplinary approach that combines genetics, genomics, evolutionary biology, and comparative genomics to gain insights into how genes and genomes evolve across species.

At its core, comparative genetics seeks to identify and compare genes, regulatory elements, and other functional elements in different species to shed light on their evolutionary history, function, and regulation. By studying the genetic variations and similarities among species, researchers can gain insights into the genetic basis of traits, evolutionary relationships, and the mechanisms underlying the diversity of life on Earth.

One key aspect of comparative genetics is the use of model organisms, which are species that are studied in depth due to their unique genetic characteristics or experimental tractability. Model organisms, such as fruit flies, mice, zebrafish, and yeast, are often used as reference species for comparative studies, allowing researchers to make comparisons across different species and uncover conserved genetic features.

Comparative genetics also plays a significant role in understanding human genetics and evolution. By comparing the human genome with those of other species, researchers can identify conserved genes and regulatory elements, which can provide insights into the function of human genes and their evolutionary history. Comparative genetics has contributed to our understanding of human evolution, migration patterns, and the genetic basis of human diseases.