Duchenne muscular distrophy genetics and molecular biology

11 important questions on Duchenne muscular distrophy genetics and molecular biology

When are genes transmitted to the next generation independent?

When the genes are located on different chromosomes.

What happens when genes are on the same chromosome but far apart?

They will show the same recombinations as genes that are on different chromosomes.

How does linkage mapping with RFPLs work?

By mapping various molecular markers and comparing them with the phenotype.
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What are the major structural changes on the chromosome?

Deletion of an entire gene, duplication of a certain gene, inversion of the genes BCD --> DCB, nonreciprical translocation, reciprocal translocation.

How can some women get Duchenne?

Mother is heterozygous.
- no X chromosome from the father(syndrome of turner).
- X-chromosome inactivation
- One X chromosome is damaged and unable to mask the non-damaged X chromosome.

How can you map the DMD gene?

By comparing the chromosome bands of the X chromosome of female carriers with translocations.
By comparing the deletions on the X chromosomes of males with DMD or an other X linked disease.

How does Fluorescence in situ hybridisation work?

Create probes, make the target DNA single stranded, anneal the probes to the single stranded DNA.

How does X-chromosome inactivation work?

In females only one X-chromosomes is active the other will turn into a Barr-body.
Some times the healthy X-chromosome is inactivated, which in the case of DMD will give rise to Duchenne in females. There is a difference in DNA methylation.

What makes the Dystrophin gene special?

It is very large 427 kDa, and very densely packed with exons.

How is dystrophin regulated?

- there are 7 different promotors.
- 2 poly (A)- addition sites
- alternative slicig

How can you repair a defective gene with a small RNA molecule?

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