Outside reading

Question 1

Tell me about X and Y chromosome recombination in males and females

Answer 1

Males: No recombination, except small parts at the ends known as the pseudo-autosomal regions

Females: crossover occurs across whole physical X pair

Question 2

Whats the benefits of the Y23 powerplex system?

Answer 2

• 5 dye, 23 Y-STR Loci amplification
• High sensitivity in the presence of female DNA
• High inhibitor tolerance
• reduced amplification time by 50%

Question 3

Whats the benefits of the Yfiler plus PCR amplification kit?

Answer 3

• 6 dye, 17 Y-STR loci
• High discriminatory markers
• Good with degraded samples
• Improved genotype accuracy through expanded allelic ladder
• Concordance with existing data in haplotype database
• increased workflow efficiency

Question 4

Relation between SNP and haplotypes

Answer 4

Haplotype also refers to the inheritance of a cluster of SNPs

In genes, SNP loci comprised of haplotypes are in linkage disequilibrium with one another

Question 5

Tell me about MinION

Answer 5

• Rapid
• unrestricted read length
• High yield
• low cost
• sequence nucleic acids
• Useful for metagenomics
• Used previously in a study with B. anthracis and was successful with profiling
• Applies nanopore sequencing technology (sequencing DNA and RNA fragments) to nucleic acid analysis

Question 6

Whats Shotgun sequencing?

Answer 6

Determine the DNA sequence of organisms genome, the method works by randomly breaking the genome into small DNA fragemtns for individual analysis

Question 7

EVC-SNP?

Answer 7

External visible characteristics that can be identified using SNPs

Question 8

Whats transcriptome analysis?

Answer 8

Study of RNA and influence to functional genome

Question 9

Whats Pyrosequencing?

Answer 9

A method of DNA sequencing based on an “sequencing by synthesis” principle in which the sequencing is performed by detecting nucleotide incorporation by DNA polymerase

This sequencing by synthesis principle is performed by MPS technologies like MiSeq

Question 10

Whats are housekeeping genes and give an example?

Answer 10

House keeping genes are expressed across tissues and conserved across species
e.g., Actin, GAPDH, Uniquitin

Question 11

Tell me some extra information regarding mtNDA?

Answer 11

Biparental inheritance of mtDNA is shown to potentially occur through autosomal dominant manner (and not necessarily just from the mother)

Question 12

Tell me some extra information regarding MPS?

Answer 12

• The error rates of MPS (0.01% with Miseq) is higher than the traditional Sanger sequencing which sets a gold standard of 0.001%
• MPS could help in metagenomics to identify microorganisms involved in human disease which couldnt previously be identified
• Metagenomics-NGS/ mNGS/ Shotgun sequencing
• during this the human reads are often removed

Question 13

mRNA and body fluid identification

Answer 13

• mRNA is only 3-5% of total RNA
• 3 mRNA markers are used for body fluid identification due to degradation

Question 14

Give an example of methylation use with forensics

Answer 14

• tDMRs (tissue specific differentially methylated regions)
• some tDMRs are close or in repeat sequencing regions
• methylation at early stages and unmethylated at later stages of development
• Help with body fluid identification as show different methylation profiles according to cell or tissue
• e.g., DACT1