Flipped lesson 6

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Questions and Answers

What are the two main approaches in molecular genetics for diagnosis?

Nucleic acid hybridisation and nucleic acid amplification (correct)

Genomic quantification and mutation screening

DNA polymerase and primer hybridisation

Polymerase chain reaction and DNA denaturation

At what temperature do the strands denature during hybridisation in a dsDNA molecule?

100°C

72°C

95°C (correct)

50°C

What happens at 72°C during the amplification (PCR) process?

The number of amplicons doubles

The complimentary DNA strand is extended in each direction (correct)

The resulting amplicons have the same sequence

The primer sequences hybridise to each strand

Which method in molecular genetics aims to determine if there is any mutation present?

Mutation scanning Signup and view all the answers

What is the best type of molecular genetic test to do for a foetus with suspected Sickle Cell Disease?

Sequencing of the β globin gene Signup and view all the answers

Which method can detect specific known mutations and check the presence/absence and size of PCR product?

Allele-specific PCR Signup and view all the answers

Which method is useful for detecting any small unbalanced structural abnormality and numerical abnormalities?

DNA Microarray Analysis (CGH) Signup and view all the answers

What method can be used to detect large scale changes in DNA fragments, such as long repeat extensions in triplet repeat disorders?

Southern Blotting/RFLP Signup and view all the answers

Which method can look at the whole genome on one microarray and detect duplications, heterozygous deletions, and copy number variability?

DNA Microarrays Signup and view all the answers

Which method is massively parallel, ultra-high throughput, and dramatically cheaper than Sanger sequencing?

Next Generation Sequencing (NGS) Signup and view all the answers

What type of molecular genetic test is indicated in diseases with few discrete but frequent mutations?

Mutation screening test such as allele specific PCR or OLA Signup and view all the answers

Which method can provide information about changes in genetic information in extracted DNA or RNA?

Molecular Genetics Signup and view all the answers

Which method can detect extra/missing DNA and look at the whole genome on one microarray?

DNA Microarrays Signup and view all the answers

Which method is not suitable for detecting balanced rearrangements, small deletions or duplications, and point mutations?

DNA Microarray Analysis (CGH) Signup and view all the answers

Which method holds promise for the diagnosis, prognosis, and therapy of genetic diseases?

Next Generation Sequencing (NGS) Signup and view all the answers

What should be considered when choosing a genetic test?

Sensitivity and specificity Signup and view all the answers

Study Notes

Molecular Genetics Diagnosis Approaches

Two main approaches for molecular genetics diagnosis: targeted mutation analysis and comprehensive genome analysis.

Denaturation Temperature

Strands of dsDNA typically denature during hybridization at temperatures around 95°C.

PCR Process at 72°C

At 72°C, the extension phase occurs during PCR, where DNA polymerase synthesizes new DNA strands by adding nucleotides to the primer, resulting in the amplification of DNA.

Mutation Detection Method

Techniques like sequencing or specific mutation testing aim to determine the presence of mutations in the genetic material.

Testing for Sickle Cell Disease

The best molecular genetic test for a fetus suspected of having Sickle Cell Disease is DNA-based testing, like PCR followed by allele-specific oligonucleotide hybridization.

Mutation Detection and PCR Product Analysis

Allele-specific PCR can detect specific known mutations and assess the presence, absence, and size of PCR products.

Abnormality Detection Methods

Array Comparative Genomic Hybridization (aCGH) is useful for detecting small unbalanced structural abnormalities and numerical chromosomal abnormalities.

Detection of Large Scale DNA Changes

Long Repeat Extensions in triplet repeat disorders can be assessed using techniques like Southern blotting or PCR with specific repeat primers.

Whole Genome Analysis Method

Whole Exome Sequencing (WES) or SNP microarrays can investigate the entire genome, detecting duplications, heterozygous deletions, and copy number variations.

Next-Generation Sequencing

Massively parallel sequencing or Next-Generation Sequencing (NGS) is ultra-high throughput and significantly more cost-effective compared to traditional Sanger sequencing.

Testing in Frequent Mutation Diseases

Targeted mutation analysis is typically indicated for diseases with few, discrete, but frequent mutations.

Genetic Information Changes

Techniques such as microarray analysis or NGS can provide insights into changes in genetic information in extracted DNA or RNA.

Detection of Genome-wide Changes

Whole-genome microarrays can detect extra or missing DNA across the genome, identifying variations in copy number.

Limitations of Certain Methods

NGS and aCGH are not suitable for detecting balanced rearrangements, small deletions, duplications, and point mutations.

Future of Genetic Testing

Emerging methods such as CRISPR-based diagnostics show promise for the diagnosis, prognosis, and therapy of genetic diseases.

Considerations for Genetic Testing

When choosing a genetic test, factors such as the type of mutation, technology available, clinical relevance, and testing purpose should be considered.

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Description

Test your knowledge of mutation screening methods such as SSCP and DGGE with this quiz. Explore the techniques used to examine genes for mutations, including unknown variations, and how abnormalities are confirmed through sequencing.