Biology Problem: Understanding PCR Markers & Hemophilia Genotypes

  • Thread starter xregina12
  • Start date
  • Tags
    Biology
In summary, the PCR marker used in this family appears to be linked to the diseased gene, and it can be determined which allele is responsible by looking at the results of the gel.
  • #1
27
0
Hi I have a question about PCR markers. I have attached an image of both a pedigree and a gel showing the genotypes of a family with a history of hemophilia, an X-linked recessive disease.

The question I am trying to answer is whether the PCR marker used appear to be linked to the diseased gene or not. If so, which allele. I know how to read the results of the gel but I don't exactly understand the question being asked. Also, how do I know whether the PCR marker is on the X or Y chromosome?

I appreciate any help.
Thanks
 

Attachments

  • Picture 2.jpg
    Picture 2.jpg
    38.8 KB · Views: 409
Physics news on Phys.org
  • #2
In which sex is there a Y chromosome?

Anyway they have told you this is a problem about X linked disease.

(And I am a bit rusty but 'Y linked recessive' wouldn't seem to make sense, does it? Anyway there are very few diseases associated with the Y chromosome because there are very few genes on it.)
 
  • #3
Hi,
Thanks for helping me answer this question. I do understand that hemophilia is a sex linked disease and that it is linked to the X-chromosome. I also see that the results of the gels show that clearly, all the members of the pedigree who are affected are clearly homozygous recessive for the allele responsible for hemophilia since the gel shows they all have the same 1 kb band. However, I guess I just don't exactly understand the concept of a PCR marker. Can you explain this more to me?
Thanks
 
  • #4
Well firstly you can answer the question without knowing about pcr! The way the disease is associated with one of the bands you see is all the information you needed to answer your question ‘which allele’. Well it seems you have done so. It is enough to enable you to answer the only question that comes up on your copy (rather badly worded) what is the probability that another son of this couple would have the disease?

For your not understanding about pcr markers, we here cannot really substitute for your textbooks and manuals, we mostly can only help clear up confusions you have from them. These often emerge when you are required to do an exercise like this.

However if it is a comfort I guess I agree you can say this is X-linked recessive. And your example is a relatively mild condition. You do have a homozygous affected female (relatively rare) who has been reproductively very successful and you also have an affected male who has reproduced. The affected males you could say literally are homozygous for one allele; males are always homozygous for X genes, I don't know whether geneticists say it that way.

For your question about pcr I don’t know whether your problem is with the ‘chemistry’ or with what the point of it is. To answer about e.g. why the lengths are what they are I would need to know more about the specific case, the genes and the primers, which is probably in your material.

But if the question is what is the point of microsatellites? It is that it if a gene had only one disease-causing mutation in a population then the conceptually simple idea of looking for it in screenings might also be practical. But if, as with haemophilia there are hundreds of different mutations known to cause the disease you need a different approach – you look at a family, and at what polymorphism is inherited along with the mutated gene by a relatively easy general method. A polymorphism of something near, or in a usually silent region actually inside the gene e.g. in an intron. These are e.g. microsatellites or short tandem repeats (STRs - the terminology tends to get somewhat rebarbative).

Pcr is a brilliant way discovered not that long ago to pick out and amplify so that you can see it, just one specific sequence of DNA out of all the vastly more rest of cellular DNA that is in a sample.
 
Last edited:
  • #5


Hello,

Thank you for your question. PCR markers are DNA sequences that are used to identify specific genetic variations or mutations in individuals. They are commonly used in molecular biology and genetics studies to help researchers understand the inheritance patterns of diseases and traits.

In the case of hemophilia, an X-linked recessive disease, the gene responsible for the disease is located on the X chromosome. In order to determine if the PCR marker used is linked to the diseased gene, you will need to compare the genotypes of the individuals in the pedigree with the results of the gel. If the PCR marker is located close to the diseased gene on the X chromosome, then you would expect to see a correlation between the presence of the PCR marker and the presence of the disease in the family members.

The allele that the PCR marker is linked to can be determined by looking at the results of the gel. If the gel shows a band at a specific location, then that indicates the presence of the PCR marker and the corresponding allele. If there is no band at that location, then the allele is not present.

To determine if the PCR marker is on the X or Y chromosome, you can refer to the pedigree. Since hemophilia is an X-linked disease, the PCR marker should also be located on the X chromosome. However, if the PCR marker is located on the Y chromosome, then it would not be linked to the diseased gene.

I hope this helps clarify the question and how to interpret the results. If you have any further questions, please don't hesitate to ask. Good luck with your research!
 

1. What is PCR and how does it work?

PCR stands for polymerase chain reaction and is a laboratory technique used to amplify a specific segment of DNA. It involves a series of heating and cooling cycles to replicate and amplify the DNA region of interest.

2. What are PCR markers and why are they important in biology?

PCR markers are specific DNA sequences that are amplified and used to identify genetic variations or mutations. They are important in biology because they allow researchers to detect and analyze genetic differences among individuals or populations.

3. How do PCR markers help in understanding hemophilia genotypes?

Hemophilia is a genetic disorder that affects blood clotting. PCR markers can be used to identify specific mutations in the genes responsible for hemophilia, allowing for the diagnosis and classification of different genotypes.

4. What is the relationship between PCR markers and DNA sequencing?

PCR markers are often used as a preliminary step in DNA sequencing. The amplified DNA from PCR can be further analyzed using sequencing techniques to determine the exact sequence of nucleotides in the DNA region of interest.

5. Can PCR markers be used in other fields besides biology?

Yes, PCR markers have a wide range of applications in fields such as medicine, forensics, and agriculture. They can be used to diagnose diseases, identify suspects in criminal investigations, and analyze genetic variations in crops and livestock.

Suggested for: Biology Problem: Understanding PCR Markers & Hemophilia Genotypes

Replies
13
Views
331
Replies
3
Views
759
Replies
4
Views
1K
Replies
8
Views
628
Replies
5
Views
596
Replies
14
Views
1K
Replies
3
Views
1K
Replies
2
Views
2K
Replies
2
Views
1K
Back
Top