Posts

Showing posts with the label Human Genetics and Chromosomal Abnormalities

How does radiation therapy work?

Radiation therapy is a treatment method that works by using  ionizing radiation to damage or destroy unwanted cells in the body.  This therapy is most commonly used to control or eliminate abnormal cell growth. The core idea behind radiation therapy is to deliver energy into the tissues in such a way that it damages the DNA inside the cells. Once the DNA is damaged beyond repair, the cells lose their ability to divide and eventually die. The working of radiation therapy is not based on general heating or burning of tissue. Instead, it is based on precise physical and biological effects caused by high-energy radiation. The therapy uses highly focused radiation so that diseased or fast-dividing cells are affected more than normal cells. To clearly understand how radiation therapy works, we need to study it in six main steps or components, which are: Type of radiation used (ionizing radiation) Mechanism of DNA damage (direct and indirect) Cellular response to DNA damage Radiation...

Why are autosomal monosomies not recovered in live-born individuals?

In normal human cells, there are 46 chromosomes, arranged in 23 pairs. Out of these, 22 pairs are autosomes (non-sex chromosomes) and 1 pair is sex chromosomes (XX in females and XY in males). A monosomy means that  one chromosome from a pair is missing,  so only one copy is present instead of two. When this happens to a sex chromosome, sometimes the individual can survive (like in Turner syndrome where one X chromosome is missing). But when this happens to an  autosome, it is called autosomal monosomy  and this condition is almost  always fatal.  Such embryos usually do not survive and result in early miscarriage, which is why autosomal monosomies are not seen in live-born individuals. There are the following main reasons why autosomal monosomies are not recovered in live births: 1. Severe gene dosage imbalance Each autosome contains many essential genes. Normally, both copies of each gene help maintain a balance in the amount of proteins and enzymes made ...

Why does the probability of a non-disjunction ton increase increase in women with age?

Non-disjunction is a type of chromosomal segregation error that occurs during cell division, particularly  meiosis,  when homologous chromosomes or sister chromatids fail to separate properly. This leads to gametes with abnormal numbers of chromosomes. In humans, non-disjunction during female meiosis is the main cause of  aneuploidy,  including conditions like Down syndrome (Trisomy 21), Turner syndrome (Monosomy X), and Klinefelter syndrome (XXY). Many studies have shown that the risk of non-disjunction increases with maternal age, especially after the  age of 35.  This is considered one of the most important biological factors in age-related decline in female fertility and increase in chromosomal abnormalities in offspring. There are four major reasons that explain why this risk increases with age in women: Prolonged meiotic arrest of oocytes Age-related loss of cohesion proteins Weakening of the spindle assembly checkpoint Age-related cellular and enviro...

What is the principle of spectral karyotyping?

The principle of spectral karyotyping (SKY) is based on  fluorescence in situ hybridization (FISH)  using  chromosome-specific DNA probes,  each labeled with a unique combination of fluorochromes. Although  only five different  fluorescent dyes are used, they are mixed in specific ratios so that each chromosome gets a unique combination of colors. This creates a specific spectral signature for every chromosome. These labeled probes are hybridized to metaphase chromosomes fixed on a glass slide. After hybridization, a fluorescence microscope with a spectral imaging system is used to detect the signals. The spectral imaging system captures the wavelength emission pattern from each chromosome. Then, spectral unmixing algorithms are applied through a computer system to separate and identify the unique color of each chromosome. In short, principle of spectral karyotyping works on the idea that: Each chromosome is labeled with a unique color code using combinatio...

Which chromosome shows a greater number of bands: prophase or metaphase chromosome? Why?

The  prophase chromosome  shows a greater number of bands as compared to the metaphase chromosome. When chromosomes are stained using banding techniques like G-banding (Giemsa banding), we observe alternating light and dark regions on chromosomes. These bands are very helpful in studying the structure of chromosomes and in identifying chromosomal abnormalities. In the  prophase stage  of mitosis, the chromosomes begin to condense, but they are still in a relatively loose or extended form. Due to this less compact structure, the staining can reveal more bands with higher resolution. Therefore, prophase chromosomes show a greater number of distinct bands. In comparison,  metaphase chromosomes  are more tightly packed and highly condensed. This makes the individual bands merge together or become less visible. As a result, the number of visible bands in metaphase is lower than in prophase. So, the answer is that prophase chromosomes show more bands than metapha...

What is the principle of spectral karyotyping?

The principle of spectral karyotyping (SKY) is based on  fluorescence in situ hybridization (FISH)  using  chromosome-specific DNA probes,  each labeled with a unique combination of fluorochromes. Although  only five different  fluorescent dyes are used, they are mixed in specific ratios so that each chromosome gets a unique combination of colors. This creates a specific spectral signature for every chromosome. These labeled probes are hybridized to metaphase chromosomes fixed on a glass slide. After hybridization, a fluorescence microscope with a spectral imaging system is used to detect the signals. The spectral imaging system captures the wavelength emission pattern from each chromosome. Then, spectral unmixing algorithms are applied through a computer system to separate and identify the unique color of each chromosome. In short, principle of spectral karyotyping works on the idea that: Each chromosome is labeled with a unique color code using combinatio...

How is the organisation of genes different between prokaryotes and eukaryotes?

The organisation of genes in prokaryotes and eukaryotes is quite different due to their structural, functional and evolutionary differences. These differences are seen in the way genes are arranged on the DNA, how they are regulated and how they are transcribed and translated. Below is a detailed explanation of their gene organisation based on major points: 1. Arrangement of Genes Prokaryotes: Genes are often arranged in clusters called  operons.  An operon is a group of genes under the control of a single promoter and transcribed together as one mRNA. These genes usually have related functions. For example, the lac operon in E. coli includes genes required for lactose metabolism. Eukaryotes: Genes are usually arranged individually. Each gene has its own promoter, enhancer and regulatory elements. Eukaryotic genes are not usually grouped by function. They are transcribed separately into different mRNAs. 2. Coding and Non-coding Regions Prokaryotes: Their genes are mostly made ...

Popular posts from this blog

What are non-coding genes? Give examples

What are the differences between gene enhancers and gene silencers? How do enhancers and silencers regulate eukaryotic gene expression?

Define and distinguish sex-linked, sex-limited and sex-influenced characters

What are epigenetic modifications? Give examples

Thomson's Plum Pudding Model of the Atom

Describe what happens when a nonsense mutation is introduced into the gene encoding transposase within a transposon

Describe the components of the promoter region of a eukaryotic gene

PYQ – MZOE-001: Parasitology (Solved Q&A) | MZOE-001 | MSCZOO | M.Sc.Zoology | IGNOU | December 2024

What are transcription factors? Describe the different categories of transcription factors

How is the organisation of genes different between prokaryotes and eukaryotes?